David Stuart Millington

Journal Article J Mass Spectrom Adv Clin Lab · April 2024 This article offers a personal account of a remarkable journey spanning over 30 years of applied mass spectrometry in a clinical setting. It begins with the author's inspiration from a clinician's story of rescuing a child from near death with a revolution ... Full text Link to item Cite

A complementary approach: Metabolomics

Chapter · January 1, 2024 This chapter presents a brief overview of metabolomics, the history of its development, principles, and applications. The differences between targeted and untargeted metabolomics are explained, and the advantages and limitations of both approaches are disc ... Full text Cite

Quantification of Glycosaminoglycans in Urine by Isotope-Dilution Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry.

Journal Article Curr Protoc · March 2023 Mucopolysaccharidoses (MPSs) are complex lysosomal storage disorders that result in the accumulation of glycosaminoglycans (GAGs) in urine, blood, and tissues. Lysosomal enzymes responsible for GAG degradation are defective in MPSs. GAGs including chondroi ... Full text Link to item Cite

Addition of MPS-II to the Recommended Uniform Screening Panel in the United States.

Journal Article International journal of neonatal screening · October 2022 It has recently been announced that the Secretary of the U.S. Department of Health and Human Services has approved the recommendation by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to add mucopolysaccharidosis type II (M ... Full text Cite

The Editor's Choice for Issue 4, Volume 7.

Journal Article Int J Neonatal Screen · March 16, 2022 Dear Readers: welcome to the Editor's Choice for Volume 7, Issue 4 of the International Journal for Newborn Screening [...]. ... Full text Link to item Cite

Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry.

Journal Article Int J Neonatal Screen · January 19, 2022 Newborn bloodspot screening (NBS) began as a research project in the Philippines in 1996 and was mandated by law in 2004. The program initially included screening for five conditions, with a sixth added in 2012. As screening technology and medical knowledg ... Full text Link to item Cite

The Editor's Choice for Issue 1, Volume 7.

Journal Article Int J Neonatal Screen · June 18, 2021 Dear Readers: welcome to the second issue of the Editor's Choice, continuing the tradition started by Peter Schielen's appraisal of Issue 4 of Volume 6 of IJNS, published in this issue [...]. ... Full text Link to item Cite

Capillary Electrophoresis-High Resolution Mass Spectrometry for Measuring In Vivo Arginine Isotope Incorporation in Alzheimer's Disease Mouse Models.

Journal Article J Am Soc Mass Spectrom · June 2, 2021 Immune-based metabolic reprogramming of arginine utilization in the brain contributes to the neuronal pathology associated with Alzheimer's disease (AD). To enable our long-term goals of differentiation of AD mouse model genotypes, ages, and sexes based on ... Full text Open Access Link to item Cite

Digital Microfluidics in Newborn Screening for Mucopolysaccharidoses: A Progress Report.

Journal Article Int J Neonatal Screen · October 8, 2020 Newborn screening (NBS) for mucopolysaccharidosis type I (MPS I, Hurler syndrome) is currently conducted in about two-fifths of the NBS programs in the United States and in a few other countries. Screening is performed by measurement of residual activity o ... Full text Link to item Cite

Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy.

Journal Article Clinica chimica acta; international journal of clinical chemistry · September 2020 AimsTo validate a liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) method for the measurement of glycosaminoglycans (GAGs) in plasma and serum. To establish plasma, cerebrospinal fluid (CSF) and urine reference intervals. To compare GAG ... Full text Cite

Acylcarnitine metabolomic profiles inform clinically-defined major depressive phenotypes.

Journal Article J Affect Disord · March 1, 2020 BACKGROUND: Acylcarnitines have important functions in mitochondrial energetics and β-oxidation, and have been implicated to play a significant role in metabolic functions of the brain. This retrospective study examined whether plasma acylcarnitine profile ... Full text Link to item Cite

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.

Journal Article JAMA Netw Open · January 3, 2020 IMPORTANCE: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal genetic disorder in which an accumulation of very long-chain fatty acids leads to inflammatory demyelination in the central nervous system and to adrenal cortex atrophy. In 2016, X-ALD was ... Full text Link to item Cite

Glycocalyx breakdown is increased in African children with cerebral and uncomplicated falciparum malaria.

Journal Article FASEB J · December 2019 Cerebral malaria (CM) from Plasmodium falciparum infection is associated with endothelial dysfunction and parasite sequestration. The glycocalyx (GCX), a carbohydrate-rich layer lining the endothelium, is crucial in vascular homeostasis. To evaluate the ro ... Full text Link to item Cite

Glycocalyx Breakdown Is Associated With Severe Disease and Fatal Outcome in Plasmodium falciparum Malaria.

Journal Article Clin Infect Dis · October 30, 2019 BACKGROUND: Interactions between the endothelium and infected erythrocytes play a major role in the pathogenesis of falciparum malaria, with microvascular dysfunction and parasite sequestration associated with worsening outcomes. The glycocalyx is a carboh ... Full text Link to item Cite

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.

Journal Article J Pediatr · August 2019 OBJECTIVE: To evaluate the performance of a 2-tiered newborn screening method for mucopolysaccharidosis type I (MPS I) in North Carolina. STUDY DESIGN: The screening algorithm included a flow injection analysis-tandem mass spectrometry assay as a first-tie ... Full text Link to item Cite

Kinetic and Cross-Sectional Studies on the Genesis of Hypoargininemia in Severe Pediatric Plasmodium falciparum Malaria.

Journal Article Infect Immun · April 2019 The low bioavailability of nitric oxide (NO) and its precursor, arginine, contributes to the microvascular pathophysiology of severe falciparum malaria. To better characterize the mechanisms underlying hypoargininemia in severe malaria, we measured the pla ... Full text Link to item Cite

The Role of Technology in Newborn Screening.

Journal Article N C Med J · 2019 This commentary traces the expansion of newborn screening for inherited metabolic disorders during the past 55 years, from the first simple test for phenylketonuria to the current panel of over 35 conditions. Emphasis is placed on the role played by techno ... Full text Link to item Cite

Mass spectrometry

Chapter · January 1, 2019 Liquid secondary ion mass spectrometry (LSIMS), also known as fast atom or fast ion bombardment mass spectrometry, was a novel ionization technique developed in the early 1980s that revolutionized the analyses of wide range of polar and biological molecule ... Full text Cite

Current State of the Art of Newborn Screening for Lysosomal Storage Disorders.

Journal Article Int J Neonatal Screen · September 2018 Prospective full-population newborn screening for multiple lysosomal storage disorders (LSDs) is currently practiced in a few NBS programs, and several others are actively pursuing this course of action. Two platforms suitable for multiple LSD screening-ta ... Full text Link to item Cite

Acetyl-l-carnitine deficiency in patients with major depressive disorder.

Journal Article Proc Natl Acad Sci U S A · August 21, 2018 The lack of biomarkers to identify target populations greatly limits the promise of precision medicine for major depressive disorder (MDD), a primary cause of ill health and disability. The endogenously produced molecule acetyl-l-carnitine (LAC) is critica ... Full text Link to item Cite

Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns.

Journal Article Expert Rev Mol Diagn · August 2018 Digital microfluidics (DMF) is an emerging technology with the appropriate metrics for application to newborn and high-risk screening for inherited metabolic disease and other conditions that benefit from early treatment. Areas covered: This review traces ... Full text Link to item Cite

Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.

Journal Article Am J Med Genet A · March 2018 Mitochondrial NAD kinase deficiency (NADK2D, OMIM #615787) is a rare autosomal recessive disorder of NADPH biosynthesis that can cause hyperlysinemia and dienoyl-CoA reductase deficiency (DECRD, OMIM #616034). NADK2 deficiency has been reported in only thr ... Full text Link to item Cite

By-products of chlorination: Specific compounds and their relationship to total organic halogen

Chapter · November 22, 2017 Over the past decade a great deal of scientific interest has focused on the hydrophobic halogenated byproducts of drinking water disinfection, principally chloroform and other trihalomethanes. Natural aquatic humic material has been implicated as a precurs ... Cite

Response to Gelb et al.: "Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs".

Journal Article Mol Genet Metab Rep · September 2017 Full text Link to item Cite

Misinformation regarding tandem mass spectrometric vs fluorometric assays to screen newborns for LSDs.

Journal Article Mol Genet Metab Rep · June 2017 Full text Link to item Cite

Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?

Journal Article Clin Chem · November 2016 Full text Link to item Cite

Potential mechanisms for low uric acid in Parkinson disease.

Journal Article J Neural Transm (Vienna) · April 2016 Several epidemiologic studies have described an association between low serum uric acid (UA) and Parkinson disease (PD). Uric acid is a known antioxidant, and one proposed mechanism of neurodegeneration in PD is oxidative damage of dopamine neurons. Howeve ... Full text Link to item Cite

Quantification of dermatan sulfate and heparan sulfate in cerebrospinal fluid using liquid chromatography-tandem mass spectrometry for therapeutic monitoring of patients with mucopolysaccharidoses

Conference Molecular Genetics and Metabolism · February 2016 Full text Cite

INCREASED TOTAL BODY ARGININE FLUX AND DECREASED NITRIC OXIDE SYNTHESIS IN SEVERE FALCIPARUM MALARIA

Conference AMERICAN JOURNAL OF TROPICAL MEDICINE AND HYGIENE · October 1, 2015 Link to item Cite

In reply.

Journal Article J Arthroplasty · May 2015 Full text Link to item Cite

A family with X-linked creatine transporter deficiency diagnosed by whole exome sequencing

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2015 Link to item Cite

A straightforward, quantitative ultra-performance liquid chromatography-tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: an improved clinical screening test for the mucopolysaccharidoses.

Journal Article Mol Genet Metab · February 2015 Mucopolysaccharidoses (MPS) are complex storage disorders that result in the accumulation of glycosaminoglycans (GAGs) in urine, blood, brain and other tissues. Symptomatic patients are typically screened for MPS by analysis of GAG in urine. Current screen ... Full text Link to item Cite

Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.

Chapter · 2015 PURPOSE: The urinary glucose tetrasaccharide, Glcα1-6Glcα1-4Glcα1-4Glc (Glc4), is a biomarker of glycogen accumulation and tissue damage and is elevated in patients with Pompe disease. We report baseline urinary Glc4 concentrations for patients with classi ... Full text Link to item Cite

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.

Journal Article Hum Mol Genet · September 15, 2014 Dienoyl-CoA reductase (DECR) deficiency with hyperlysinemia is a rare disorder affecting the metabolism of polyunsaturated fatty acids and lysine. The molecular basis of this condition is currently unknown. We describe a new case with failure to thrive, de ... Full text Link to item Cite

Development of Biomarker Assays for Clinical Diagnostics Using a Digital Microfluidics Platform

Chapter · June 30, 2014 Digital microfluidics (DMF) is a novel lab-on-a-chip technology that permits the transport, mixing, and splitting of sub-microliter droplets within an array of electrodes on a disposable printed circuit board entirely under software control. We describe he ... Full text Cite

Direct Solvent Extraction and Analysis of Biomarkers in Dried Blood Spots Using a Flow-Through Autosampler

Chapter · June 30, 2014 A new flow-through autosampler designed to extract biologically important small molecules from dried blood spots (DBS) on filter paper for direct analysis by tandem mass spectrometry is described. The device included a microcomputer to control the timing a ... Full text Cite

DRIED BLOOD SPOT ENZYMATIC ASSAYS FOR MPS TYPE IVA (MORQUIO) AND TYPE VI (MAROTEAUX-LAMY) SYNDROMES

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2014 Link to item Cite

The development and validation of dried blood spot enzymatic assays for MPS type IV A (Morquio) and type VI (Maroteaux-Lamy) syndromes

Conference Molecular Genetics and Metabolism · February 2014 Full text Cite

Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots.

Journal Article Mol Genet Metab Rep · 2014 Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulation of u ... Full text Link to item Cite

Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots.

Journal Article Mol Genet Metab Rep · 2014 Mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disorder caused by deficiency of arylsulfatase B (ARS-B) enzyme activity. It results in mild to severe multi-organ system failure from accumulation of undi ... Full text Link to item Cite

Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns.

Journal Article Clin Biochem · December 2013 OBJECTIVE: Newborn screening for biotinidase deficiency can be performed using a fluorometric enzyme assay on dried blood spot specimens. As a pre-requisite to the consolidation of different enzymatic assays onto a single platform, we describe here a novel ... Full text Link to item Cite

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.

Journal Article Clin Chim Acta · September 23, 2013 PURPOSE: New therapies for lysosomal storage diseases (LSDs) have generated interest in screening newborns for these conditions. We present performance validation data on a digital microfluidic platform that performs multiplex enzymatic assays for Pompe, F ... Full text Link to item Cite

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.

Journal Article Mol Genet Metab · June 2013 Guanidinoacetate methyltransferase (GAMT) deficiency is a good candidate disorder for newborn screening because early treatment appears to improve outcomes. We report elevation of guanidinoacetate in archived newborn dried blood spots for 3 cases (2 famili ... Full text Link to item Cite

Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.

Journal Article Mol Genet Metab · June 2013 OBJECTIVE: Easy tool for newborn screening of Gaucher and Hurler diseases. METHODS: Method comparison between fluorometric enzymatic activity assay on a digital microfluidic platform and micro-titer plate bench assay was performed on normal (n = 100), Gauc ... Full text Link to item Cite

Quantification of glycosaminoglycans in urine by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.

Journal Article Curr Protoc Hum Genet · 2013 Mucopolysaccharidoses (MPSs) are complex lysosomal storage disorders that result in the accumulation of glycosaminoglycans (GAGs) in urine, blood, and tissues. Lysosomal enzymes responsible for GAG degradation are defective in MPSs. GAGs including chondroi ... Full text Link to item Cite

Systemic oxidative stress, as measured by urinary allantoin and F(2)-isoprostanes, is not increased in Down syndrome.

Journal Article Ann Epidemiol · December 2012 PURPOSE: Oxidative stress has been implicated in Down syndrome (DS) pathology. This study compares DS individuals and controls on their urinary levels of allantoin and 2,3-dinor-iPF2α-III; these biomarkers have been previously validated in a clinical model ... Full text Link to item Cite

Extraction and analysis of carnitine and acylcarnitines by electrospray ionization tandem mass spectrometry directly from dried blood and plasma spots using a novel autosampler.

Journal Article Rapid Commun Mass Spectrom · November 15, 2012 RATIONALE: Acylcarnitines are routinely analyzed by electrospray ionization tandem mass spectrometry (ESI-MS/MS) both in clinical diagnostic and public health newborn screening laboratories from plasma and dried whole blood spots (DBS) on filter paper. The ... Full text Link to item Cite

QUANTIFICATION OF GLYCOSAMINOGLYCANS IN HUMAN URINE AND MOUSE TISSUE BY UPLC-MS/MS

Journal Article JOURNAL OF INHERITED METABOLIC DISEASE · September 1, 2012 Link to item Cite

Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner.

Journal Article Hepatology · July 2012 UNLABELLED: Hepatitis C virus (HCV) subverts host cholesterol metabolism for key processes in its lifecycle. How this interference results in the frequently observed, genotype-dependent clinical sequelae of hypocholesterolemia, hepatic steatosis, and insul ... Full text Link to item Cite

An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper.

Journal Article Clin Chim Acta · April 11, 2012 BACKGROUND: Mucopolysaccharidoses are complex lysosomal storage disorders caused by any of eleven different enzyme deficiencies resulting in the accumulation of substrates, mainly glycosaminoglycans (GAGs), in various tissues and biological fluids. METHOD: ... Full text Link to item Cite

A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.

Journal Article Mol Genet Metab · March 2012 Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a lysosomal storage disease caused by deficiency of iduronate-2-sulfatase (IDS). A convenient single-step fluorometric microplate enzyme assay has been developed and validated for clinical diagno ... Full text Link to item Cite

Quantification of glycosaminoglycans in human urine and mouse tissue by UPLC-MS/MS

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2012 Link to item Cite

Assessment of urinary globotriaosylsphingosine (lyso-Gb(3)), globotriaosylceramide (gb(3)) by LC-MS/MS in patients with fabry disease

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2012 Link to item Cite

Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.

Journal Article Am J Med Genet C Semin Med Genet · February 15, 2012 Defining disease severity in patients with Pompe disease is important for prognosis and monitoring the response to therapies. Current approaches include qualitative and quantitative assessments of the disease burden, and clinical measures of the impact of ... Full text Link to item Cite

Urinary F2-isoprostanes as a biomarker of reduced risk of type 2 diabetes.

Journal Article Diabetes Care · January 2012 OBJECTIVE: We have previously reported evidence of an inverse association between a urinary F(2)-isoprostane and type 2 diabetes risk in a pilot case-control study nested within the Insulin Resistance Atherosclerosis Study (IRAS). Here, we report the resul ... Full text Link to item Cite

Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns.

Journal Article Clin Chem · October 2011 Featured Publication BACKGROUND: Newborn screening for lysosomal storage diseases (LSDs) has been gaining considerable interest owing to the availability of enzyme replacement therapies. We present a digital microfluidic platform to perform rapid, multiplexed enzymatic analysi ... Full text Link to item Cite

METABOLOMIC ANALYSIS DEMONSTRATES HEPATITIS C VIRUS GENOTYPES G2/3 SELECTIVELY PERTURB DISTAL STEPS IN CHOLESTEROL BIOSYNTHESIS

Conference HEPATOLOGY · October 1, 2011 Link to item Cite

Analysis of glycosaminoglycans in cerebrospinal fluid from patients with mucopolysaccharidoses by isotope-dilution ultra-performance liquid chromatography-tandem mass spectrometry.

Journal Article Clin Chem · July 2011 BACKGROUND: New therapies for the treatment of mucopolysaccharidoses that target the brain, including intrathecal enzyme replacement, are being explored. Quantitative analysis of the glycosaminoglycans (GAGs) that accumulate in these disorders is required ... Full text Link to item Cite

Efficient urine filter paper mass spectrometry methodology for glycosaminoglycan quantification

Conference Molecular Genetics and Metabolism · February 2011 Full text Cite

Acylcarnitines: analysis in plasma and whole blood using tandem mass spectrometry.

Journal Article Methods Mol Biol · 2011 Featured Publication The acylcarnitine profile is a diagnostic test for inherited disorders of fatty acid and branched-chain amino acid catabolism. Patients with this type of metabolic disorder accumulate disease-specific acylcarnitines that correlate with the acyl coenzyme A ... Full text Link to item Cite

Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI.

Journal Article Mol Genet Metab · January 2011 Featured Publication Mucopolysaccharidoses (MPSs) are complex storage disorders caused by specific lysosomal enzyme deficiencies, resulting in the accumulation of glycosaminoglycans (GAGs) in urine, plasma, as well as in various tissues. We devised and validated a straightforw ... Full text Link to item Cite

Individual responses to chemotherapy-induced oxidative stress.

Journal Article Breast Cancer Res Treat · January 2011 Differences in redox homeostatic control between cancer patients may underlie predisposition to drug resistance and toxicities. To evaluate interindividual differences in redox response among newly diagnosed breast cancer patients undergoing standard chemo ... Full text Link to item Cite

GLYCOSAMINOGLYCAN QUANTIFICATION BY LC/MS-MS FOR MUCOPOLYSACCHARIDOSES

Conference JOURNAL OF INHERITED METABOLIC DISEASE · January 1, 2011 Link to item Cite

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

Journal Article Clin Chim Acta · December 14, 2010 BACKGROUND: Fabry disease is characterized by accumulation of glycosphingolipids, such as globotriaosylceramide (Gb(3)), in many tissues and body fluids. A novel plasma biomarker, globotriaosylsphingosine (lyso-Gb(3)), is increased in patients with the dis ... Full text Link to item Cite

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.

Journal Article Orphanet J Rare Dis · October 5, 2010 A female patient, with normal familial history, developed at the age of 30 months an episode of diarrhoea, vomiting and lethargy which resolved spontaneously. At the age of 3 years, the patient re-iterated vomiting, was sub-febrile and hypoglycemic, fell i ... Full text Open Access Link to item Cite

MILD MCAD MAY ALSO BE DIAGNOSED BY MEASURING WHOLE BLOOD ACYLCARNITINE PRODUCTION RATES GENERATED FROM DEUTERATED PALMITATE

Conference JOURNAL OF INHERITED METABOLIC DISEASE · August 1, 2010 Link to item Cite

Allantoin in human urine quantified by ultra-performance liquid chromatography-tandem mass spectrometry.

Journal Article Anal Biochem · July 15, 2010 Uric acid is a potent antioxidant and scavenger of singlet oxygen and other radicals in humans. Allantoin, the predominant product of free radical-induced oxidation of uric acid, is efficiently excreted in the urine and has potential as a biomarker of oxid ... Full text Link to item Cite

Urinary biomarkers of oxidative status in a clinical model of oxidative assault.

Journal Article Cancer Epidemiol Biomarkers Prev · June 2010 BACKGROUND: We used doxorubicin-based chemotherapy as a clinical model of oxidative assault in humans. METHODS: The study recruited newly diagnosed breast cancer patients (n = 23). Urine samples were collected immediately before (T0) and at 1 hour (T1) and ... Full text Link to item Cite

Quantification of the oxidative damage biomarker 2,3-dinor-8-isoprostaglandin-F(2alpha) in human urine using liquid chromatography-tandem mass spectrometry.

Journal Article Anal Biochem · April 15, 2010 F(2)-isoprostanes are useful biomarkers of oxidative status in humans. We developed an ultraperformance liquid chromatography-tandem mass spectrometric (UPLC-MS/MS) method to quantify 2,3-dinor-8-iso prostaglandin F(2alpha), a urinary metabolite of 8-iso-p ... Full text Link to item Cite

Digital microfluidics: a future technology in the newborn screening laboratory?

Journal Article Semin Perinatol · April 2010 Expansion of newborn screening for inherited metabolic disorders using tandem mass spectrometry has generated interest in screening for other treatable conditions, including lysosomal storage diseases. Limitations to expansion include labor and equipment c ... Full text Link to item Cite

7. A urinary glycosaminoglycan analysis by tandem mass spectrometry

Conference Molecular Genetics and Metabolism · February 2010 Full text Cite

8. How useful is urinary lyso-Gb3 as a biomarker for Fabry disease?

Conference Molecular Genetics and Metabolism · February 2010 Full text Cite

METABOLOMICS, BIOMARKER DISCOVERY AND FABRY DISEASE: AN EFFICIENT PLATFORM IS NECESSARY!

Conference CLINICAL THERAPEUTICS · January 1, 2010 Link to item Cite

LABORATORY EXPERIENCE OF USING DRIED BLOOD SPOT ASSAY TO DIAGNOSE POMPE DISEASE

Conference MUSCLE & NERVE · October 1, 2009 Link to item Cite

Gb(3)/creatinine biomarkers for Fabry disease: issues to consider.

Journal Article Mol Genet Metab · July 2009 Full text Link to item Cite

Hostility and minimal model of glucose kinetics in African American women.

Journal Article Psychosom Med · July 2009 OBJECTIVE: To explore the underlying physiology of hostility (HOST) and to test the hypothesis that HOST has a greater impact on fasting glucose in African American (AA) women than it does on AA men or white men or women, using an intravenous glucose toler ... Full text Link to item Cite

Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker.

Journal Article Genet Med · July 2009 PURPOSE: To investigate the correlation of the urinary glucose tetrasaccharide, Glcalpha1-6Glcalpha1-4Glcalpha1-4Glc, (Glc4) with skeletal muscle glycogen content and the long-term clinical response to enzyme replacement therapy with recombinant human acid ... Full text Link to item Cite

Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.

Journal Article Muscle Nerve · July 2009 Pompe disease (acid maltase deficiency; glycogen storage disease type II) is caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Our clinical laboratory began to offer a fluorometric dried blood spot (DBS)-based GAA activity assay fo ... Full text Link to item Cite

A Branched-Chain Amino Acid-Related Metabolic Signature that Differentiates Obese and Lean Humans and Contributes to Insulin Resistance (DOI:10.1016/j.cmet.2009.02.002)

Journal Article Cell Metabolism · May 14, 2009 Full text Cite

Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease.

Journal Article J Inherit Metab Dis · April 2009 Fabry disease is a complex, multisystemic and clinically heterogeneous disease with prominent urinary excretion of globotriaosylceramide (Gb(3)), the principal substrate of the deficient enzyme, alpha-galactosidase A. Some measure of specific treatment is ... Full text Link to item Cite

A branched-chain amino acid-related metabolic signature that differentiates obese and lean humans and contributes to insulin resistance.

Journal Article Cell Metab · April 2009 Metabolomic profiling of obese versus lean humans reveals a branched-chain amino acid (BCAA)-related metabolite signature that is suggestive of increased catabolism of BCAA and correlated with insulin resistance. To test its impact on metabolic homeostasis ... Full text Link to item Cite

A convenient LC-MS method for assessment of glucose kinetics in vivo with D-[13C6]glucose as a tracer.

Journal Article Clin Chem · March 2009 Featured Publication BACKGROUND: The isotope-labeled intravenous glucose tolerance test (IVGTT) combined with computer modeling is widely used to derive parameters related to glucose metabolism in vivo. Most of these methods involve use of either (2)H(2)-labeled or (13)C(1)-la ... Full text Link to item Cite

The STEDMAN project: biophysical, biochemical and metabolic effects of a behavioral weight loss intervention during weight loss, maintenance, and regain.

Journal Article OMICS · February 2009 The Study of the Effects of Diet on Metabolism and Nutrition (STEDMAN) Project uses comprehensive metabolic profiling to probe biochemical mechanisms of weight loss in humans. Measurements at baseline, 2 and 4 weeks, 6 and 12 months included diet, body com ... Full text Link to item Cite

Use of urinary globotriaosylceramide for fabry disease screening in Canada

Journal Article Clinical Therapeutics · November 19, 2008 Full text Cite

Rapid and effective screening for lysosomal storage disease: how close are we?

Journal Article Clin Chem · October 2008 Full text Link to item Cite

Brain-specific carnitine palmitoyl-transferase-1c: role in CNS fatty acid metabolism, food intake, and body weight.

Journal Article J Neurochem · May 2008 While the brain does not utilize fatty acids as a primary energy source, recent evidence shows that intermediates of fatty acid metabolism serve as hypothalamic sensors of energy status. Increased hypothalamic malonyl-CoA, an intermediate in fatty acid syn ... Full text Link to item Cite

Guidelines for clinical laboratory practice: Evaluation of maternal-fetal risk and reference values in pregnancy. Section V and VII

Journal Article Acta Bioquimica Clinica Latinoamericana · October 1, 2007 Cite

Erratum: Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia (Gene Therapy (2006) vol. 13 (1281-1289) 10.1038/sj.gt.3302774)

Journal Article Gene Therapy · February 1, 2007 Full text Cite

Disorders of amino acid metabolism

Chapter · January 1, 2007 Of the many genetic disorders that express themselves as specific defects of amino acid metabolism, some, including two of Garrod’s four original “inborn errors of metabolism” (albinism, alkaptonuria), produce significant abnormalities in the ocular tissue ... Cite

ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein beta-subunit.

Journal Article Hum Mol Genet · December 15, 2006 Using the metabolomics-guided screening coupled to N-ethyl-N-nitrosourea-mediated mutagenesis, we identified mice that exhibited elevated levels of long-chain acylcarnitines. Whole genome homozygosity mapping with 262 SNP markers mapped the disease gene to ... Full text Link to item Cite

Erratum: Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia (Gene Therapy (2006) vol. 13 (1281-1289) 10.1038/sj.gt.3302774))

Journal Article Gene Therapy · October 1, 2006 Full text Cite

Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia.

Journal Article Gene Ther · September 2006 The deficiency of glucose-6-phosphatase (G6Pase) underlies life-threatening hypoglycemia and growth retardation in glycogen storage disease type Ia (GSD-Ia). An adeno-associated virus (AAV) vector encoding G6Pase was pseudotyped as AAV8 and administered to ... Full text Link to item Cite

Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.

Journal Article Pediatr Res · September 2006 The isobutyryl-CoA dehydrogenase (IBD) enzyme is involved in the degradation of valine. IBD deficiency was first reported in 1998 and subsequent genetic investigations identified acyl-CoA dehydrogenase (ACAD) 8, now IBD, as the gene responsible for IBD def ... Full text Link to item Cite

Erratum: Naming and counting disorders (conditions) included in newborn screening panels (Pediatrics (May 2006) 117 (S308-S314) doi 10.1542/peds.2005- 2633J)

Journal Article Pediatrics · August 1, 2006 Full text Cite

Erratum: Pompe disease diagnosis and management guidelines (Genetics in Medicine (May 2006) 8 (267-288))

Journal Article Genetics in Medicine · June 1, 2006 Full text Cite

Pompe disease diagnosis and management guideline.

Journal Article Genet Med · May 2006 Full text Link to item Cite

Naming and counting disorders (conditions) included in newborn screening panels.

Journal Article Pediatrics · May 2006 The rapid introduction of new technologies for newborn screening is affecting decisions about the disorders (conditions) that are required or offered as an option through public and private newborn screening. An American College of Medical Genetics report ... Full text Link to item Cite

Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease.

Journal Article Genet Med · May 2006 PURPOSE: The study's purpose was to compare acarbose and maltose as inhibitors of maltase-glucoamylase activity for determining acid alpha-glucosidase activity in dried blood spot specimens for early identification of patients with infantile Pompe disease, ... Full text Link to item Cite

The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.

Journal Article J Inherit Metab Dis · February 2006 Featured Publication North Carolina (NC) was the first US state to initiate universal tandem mass spectrometry (MS/MS) newborn screening. This began as a statewide pilot project in 1997 to determine the incidence and feasibility of screening for fatty acid oxidation, organic a ... Full text Link to item Cite

The Study of the Effects of Diet on Metabolism and Nutrition (STEDMAN) weight loss project: Rationale and design.

Journal Article Contemp Clin Trials · December 2005 This paper outlines the rationale and design of the Study of the Effects of Diet on Metabolism and Nutrition (STEDMAN) weight loss project, in which detailed biologic profiling of three hundred and fifty obese individuals (body mass index (BMI): 30-50 kg/m ... Full text Link to item Cite

Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease.

Journal Article Mol Genet Metab · August 2005 Featured Publication A tetraglucose oligomer, Glcalpha1-6Glcalpha1-4Glcalpha1-4Glc, designated Glc4, has been shown to be a putative biomarker for the diagnosis of Pompe disease. The purpose of this study was to assess whether Glc4 could be used to monitor the therapeutic resp ... Full text Link to item Cite

Newborn screening for lysosomal storage disorders.

Journal Article Clin Chem · May 2005 Full text Link to item Cite

Hepatic expression of malonyl-CoA decarboxylase reverses muscle, liver and whole-animal insulin resistance.

Journal Article Nat Med · March 2004 Lipid infusion or ingestion of a high-fat diet results in insulin resistance, but the mechanism underlying this phenomenon remains unclear. Here we show that, in rats fed a high-fat diet, whole-animal, muscle and liver insulin resistance is ameliorated fol ... Full text Link to item Cite

ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.

Journal Article J Clin Invest · February 2004 Tandem mass spectrometry was applied to detect derangements in the pathways of amino acid and fatty acid metabolism in N-ethyl-N-nitrosourea-treated (ENU-treated) mice. We identified mice with marked elevation of blood branched-chain amino acids (BCAAs), k ... Full text Link to item Cite

A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.

Journal Article Clin Chim Acta · November 2003 BACKGROUND: Homozygosity and compound heterozygosity for the short chain acyl-CoA dehydrogenase (SCAD) gene sequence variants 625G-->A and 511C-->T are associated with ethylmalonic aciduria (EMA), a biochemical indicator of SCAD deficiency. The clinical an ... Full text Link to item Cite

Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.

Journal Article Pediatr Res · August 2003 Tandem mass spectrometry was adopted for newborn screening by North Carolina in April 1999. Since then, three infants with short-chain acyl-CoA dehydrogenase (SCAD) and one with isobutyryl-CoA dehydrogenase deficiency were detected on the basis of elevated ... Full text Link to item Cite

Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry.

Journal Article Anal Biochem · May 15, 2003 Featured Publication Patients with glycogen storage disease type II (GSD II) typically excrete increased amounts of a glycogen-derived glucose tetrasaccharide, Glcalpha1-6Glcalpha1-4Glcalpha1-4Glc (Glc(4)), in the urine. With the advent of a new enzyme replacement therapy for ... Full text Link to item Cite

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.

Journal Article J Inherit Metab Dis · 2003 Since the addition of tandem mass spectrometry (MS/MS) to the North Carolina Newborn Screening Program, 20 infants with two consecutive elevated 3-hydroxyisovalerylcarnitine (C5OH) levels have been evaluated for evidence of inborn errors of metabolism asso ... Full text Link to item Cite

Isomeric oligosaccharide analysis using hydrophilic interaction LC-ESI-MS/MS

Journal Article Proceedings 50th ASMS Conference on Mass Spectrometry and Allied Topics · December 1, 2002 A hydrophilic interaction liquid chromatography electrospray ionization mass spectrometry (LC-ESI-MS/MS) method was established for the separation and analysis of hexose tetrasaccharide linkage isomers in urine, plasma and blood spots. Using the LC-ESI-MS/ ... Cite

An LC-MS/MS method for determination of glycosaminoglycan content of urine for the diagnosis of mucopolysaccharidoses

Journal Article Proceedings 50th ASMS Conference on Mass Spectrometry and Allied Topics · December 1, 2002 A quantitative liquid chromatography/mass spectrometry/mass spectrometry (LC/MS/MS) is developed to measure the characterstic disaccharide derived from glycosaminoglycans (GAG) by partial methanolysis. The results show that methanolysis replace the sulphat ... Cite

Impaired fuel homeostasis leads to defective non-shivering thermogenesis in the 70kDa Peroxisomal Membrane Protein (PMP70) deficient mouse.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2002 Link to item Cite

Partial phenotypic correction of the 70kDa peroxisomal membrane protein (PMP70) deficient mouse by making it PPAR alpha deficient.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2002 Link to item Cite

Robustness of MetaNet graph models: predicting control of urea production in humans.

Journal Article Biosystems · February 2002 Urea production in human liver was described by a MetaNet graph, a flowchart-like representation of metabolic pathways that includes parameters for the kinetic constants of the constituent enzymes. Formal operations on the graph facilitate the identificati ... Full text Link to item Cite

Newborn screening for metabolic diseases

Journal Article American Scientist · January 1, 2002 Full text Cite

Plasma carnitine in HIV-associated neuropathy.

Journal Article AIDS · November 9, 2001 Full text Link to item Cite

Validation of glucose tetrasaccharide as a biomarker for diagnosis and mornitoring enzyme replacement therapy for Pompe disease.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2001 Link to item Cite

Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.

Journal Article Hum Mol Genet · September 15, 2001 Although many patients have been found to have very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, none have been documented with long-chain acyl-CoA dehydrogenase (LCAD) deficiency. In order to understand the metabolic pathogenesis of long-chain fa ... Full text Link to item Cite

Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration.

Journal Article Pediatrics · May 2001 We report a child initially diagnosed with promethazine-induced dystonia despite a lack of response to diphenhydramine therapy. On further evaluation, the child was diagnosed with glutaric acidemia, type I (GA-I), an autosomal recessive inborn error of met ... Full text Link to item Cite

Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency.

Journal Article J Pediatr · April 2001 There is a correlation between pregnancy complications such as acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency. We diagnosed another fatty acid beta-oxidation defect, short-chain acyl-coenzyme A dehyd ... Full text Link to item Cite

Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease.

Journal Article Anal Biochem · December 1, 2000 A HPLC method associated with butyl-p-aminobenzoate derivatization has been developed for the analysis of a tetraglucose oligomer, Glcalpha1-6Glcalpha1-4Glcalpha1-4Glc, designated Glc(4), in biological fluids. This tetraglucose, normally excreted in the ur ... Full text Link to item Cite

Evaluation of elevated hydroxyisovalerylcarnitine in the newborn screen by tandem mass spectrometry.

Journal Article AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2000 Link to item Cite

Detection by newborn screening of asymptomatic, putative short-chain acylCoA dehydrogenase (SCAD) deficiency.

Journal Article AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2000 Link to item Cite

Incidence of metabolic disorders detected by newborn screening in North Carolina using tandem mass spectrometry.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2000 Link to item Cite

Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency.

Journal Article J Inherit Metab Dis · September 2000 The acylcarnitines in plasma and blood spots of 23 patients with proven deficiency of long-chain 3-hydroxyacylcoenzyme A dehydrogenase were reviewed. Long-chain 3-hydroxyacylcarnitines of C14:1, C14, C16 and C18:1 chain length, and long-chain acylcarnitine ... Full text Link to item Cite

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.

Journal Article Pediatr Res · June 2000 An 4-mo-old male was found to have an isolated increase in 2-methylbutyrylglycine (2-MBG) and 2-methylbutyrylcamitine (2-MBC) in physiologic fluids. In vitro oxidation studies in cultured fibroblasts using 13C- and 14C-labeled branched chain amino acids in ... Full text Link to item Cite

Assay for free and total carnitine in human plasma using tandem mass spectrometry.

Journal Article Clin Chem · May 2000 Link to item Cite

Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.

Journal Article J Inherit Metab Dis · February 2000 Mitochondrial fatty acid oxidation disorders cause hypoglycaemia, hepatic dysfunction, myopathy, cardiomyopathy and encephalopathy. Despite their recognition for more than 15 years, diagnosis and treatment remain difficult. To help design rational diagnost ... Full text Link to item Cite

The clinical and metabolic effects of rapid weight loss in obese pet cats and the influence of supplemental oral L-carnitine.

Journal Article J Vet Intern Med · 2000 The efficacy, safety, and metabolic consequences of rapid weight loss in privately owned obese cats by means of a canned weight-reduction diet and the influence of orally administered L-carnitine on rate of weight loss, routine clinical evaluations, hepati ... Full text Link to item Cite

Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.

Journal Article Am J Med Genet · December 3, 1999 A patient with severe pyruvate carboxylase deficiency presented at age 11 weeks with metabolic decompensation after routine immunization. She was comatose, had severe lactic acidemia (22 mM) and ketosis, low aspartate and glutamate, elevated citrulline and ... Full text Link to item Cite

Broadening the spectrum of fetal fatty acid beta-oxidation (FAO) disorders causing liver disease in pregnant women.

Journal Article AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 1999 Link to item Cite

Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis.

Journal Article Pediatr Res · July 1999 Trifunctional protein (TFP) plays a significant role in the mitochondrial beta-oxidation of long-chain fatty acids. Its deficiency impairs the energy generating function of this pathway and causes hypoketotic hypoglycemia once hepatic glycogen stores are d ... Full text Link to item Cite

3-hydroxy-3-methylglutaric aciduria presenting with Reye like syndrome: report of one case.

Journal Article Acta Paediatr Taiwan · 1999 We report the case of a patient with 3-hydroxy-3-methylglutaric aciduria who presented with a repeat attack of Reye like syndrome clinically. Vomiting and somnolence, generalized tonic and clonic convulsions with hepatomegaly, hyperammonemia, liver functio ... Link to item Cite

[Atypical course of a multiple acyl-CoA-dehydrogenase deficiency].

Journal Article Klin Padiatr · 1999 UNLABELLED: In a female newborn presenting with rapid metabolic deterioration (hypoketotic hypoglycaemia and acidosis) clinically accompanied by a "sweaty feet"-odour, the excretion pattern of organic acids in the urine suggested on the fourth day of live ... Full text Link to item Cite

Untypical case of multiple acyl-CoA-dehydrogenase deficiency

Journal Article Klinische Padiatrie · 1999 In a female newborn presenting with rapid metabolic deterioration (hypoketotic hypoglycaemia and acidosis) clinically accompanied by a 'sweaty feet'-odour, the excretion pattern of organic acids in the urine suggested on the fourth day of live multiple acy ... Cite

Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation.

Journal Article Proc Natl Acad Sci U S A · December 22, 1998 Abnormalities of fatty acid metabolism are recognized to play a significant role in human disease, but the mechanisms remain poorly understood. Long-chain acyl-CoA dehydrogenase (LCAD) catalyzes the initial step in mitochondrial fatty acid oxidation (FAO). ... Full text Link to item Cite

Surface structure of human mucin using X-ray photoelectron spectroscopy.

Journal Article Biospectroscopy · 1998 X-ray photoelectron spectroscopy (XPS) is a surface sensitive analytical technique that measures the binding energy of electrons in atoms and molecules on the surface of a material. XPS was used to determine the distribution of the oligosaccharide side cha ... Full text Link to item Cite

Valproate-associated carnitine deficiency and malignant cerebral edema in the absence of hepatic failure.

Journal Article Int J Clin Pharmacol Ther · September 1997 We describe a 27-year-old woman who developed encephalopathy and cerebral edema during treatment of refractory complex partial seizures that included acute administration of valproate (VPA) at a dosage of 35 mg/kg per day. Multiple random VPA levels were w ... Link to item Cite

Hypoxia inhibits nitric oxide synthesis in isolated rabbit lung.

Journal Article Am J Physiol · June 1997 Nitric oxide (NO.) has been proposed to modulate hypoxic vasoconstriction in the lung. The activity of nitric oxide synthase (NOS) can be inhibited by hypoxia because molecular oxygen is a necessary substrate for the enzyme. On the basis of this mechanism, ... Full text Link to item Cite

Hypoxia inhibits nitric oxide synthesis in isolated rabbit lung

Journal Article AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY · June 1, 1997 Link to item Cite

Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

Journal Article Am J Gastroenterol · November 1996 BACKGROUND: The similarity of the hepatic pathology in acute fatty liver of pregnancy (AFLP) to that seen in children with inherited disorders of intramitochondrial fatty acid oxidation (FAO) suggests that there may be a genetic basis for some cases of AFL ... Link to item Cite

Acetyl-L-carnitine deficiency as a cause of altered nerve myo-inositol content, Na,K-ATPase activity, and motor conduction velocity in the streptozotocin-diabetic rat.

Journal Article Metabolism · July 1996 Defective metabolism of long-chain fatty acids and/or their accumulation in nerve may impair nerve function in diabetes by altering plasma or mitochondrial membrane integrity and perturbing intracellular metabolism and energy production. Carnitine and its ... Full text Link to item Cite

Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry.

Journal Article Clin Chem · March 1996 We report a new method for the diagnosis of homocystinuria and other hypermethioninemias from dried blood spots on newborn screening cards, based on isotope-dilution tandem mass spectrometry. The mean concentration of methionine in 909 unaffected newborns ... Link to item Cite

Chronic sodium benzoate therapy in children with inborn errors of urea synthesis: effect on carnitine metabolism and ammonia nitrogen removal.

Journal Article Biochem Mol Med · February 1996 Sodium benzoate (SB) therapy is known to increase ammonia (NH3) nitrogen elimination via conjugation with glycine and excretion as urinary hippurate. In 16 children with inborn errors of urea synthesis we studied two issues: (1) the effect of chronic SB ad ... Full text Link to item Cite

Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.

Journal Article J Inherit Metab Dis · 1996 Full text Link to item Cite

Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.

Journal Article Am J Med Genet · December 4, 1995 Five patients presenting with non-ketotic hyperglycinemia in the neonatal period were treated with sodium benzoate to normalize plasma glycine levels. This therapy resulted in seizure reduction and a marked increase in wakefulness. Plasma carnitine deficie ... Full text Link to item Cite

3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase.

Journal Article Clin Chim Acta · August 31, 1995 Full text Link to item Cite

CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY - BENIGN COURSE WITHOUT CARDIAC INVOLVEMENT

Conference PEDIATRIC RESEARCH · April 1, 1995 Link to item Cite

Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)?

Journal Article Pediatr Neurol · January 1995 The purpose of this study was to further identify and quantify the fatty acid oxidation abnormalities in spinal muscular atrophy, correlate these with disease severity, and identify specific underlying defect(s). Fifteen children with spinal muscular atrop ... Full text Link to item Cite

3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency.

Journal Article J Inherit Metab Dis · 1995 A new acylcarnitine was observed in the plasma and urine of a patient with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Analysis by tandem mass spectrometry of the methyl ester and butyl ester and their fragment ion spectra identified it as a 3-hy ... Full text Link to item Cite

Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry.

Journal Article Clin Chem · January 1995 We report a new method for the diagnosis of maple syrup urine disease (MSUD) from dried blood spots on newborn screening cards based on tandem mass spectrometry (MS-MS). The mean +/- SD concentration of Leu plus Ile in normal newborns was 151 +/- 47 mumol/ ... Link to item Cite

Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency.

Journal Article J Inherit Metab Dis · 1995 Genetic deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC) is a rare inborn error of leucine metabolism producing an organic acidaemia. With accumulation of 3-methylcrotonyl-CoA, there is increased production of 3-hydroxyisovaleric acid, the glycine co ... Full text Link to item Cite

Performance of the serum cobalamin assay for diagnosis of cobalamin deficiency.

Journal Article Am J Med Sci · November 1994 The authors' objective, with this study, was to determine the use in routine clinical practice of the cobalamin serum assay in evaluating patients suspected of having cobalamin deficiency. The design was a prospective observational study of a diagnostic te ... Full text Link to item Cite

Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy.

Journal Article Brain Dev · November 1994 Five infants from 3 families, one Egyptian, two Yemeni, are described with a progressive encephalopathy, four of whom have been studied in detail. All patients showed vascular lesions of the skin, characterized by waxing and waning petechiae and ecchymoses ... Full text Link to item Cite

Acrylamide in polyacrylamide gels can modify proteins during electrophoresis.

Journal Article Anal Biochem · October 1994 Many notable discoveries have resulted from the characterization or purification of compounds by electrophoresis. The results reported here show that when polyacrylamide gels are used as the support matrix for electrophoresis, proteins can be modified by r ... Full text Link to item Cite

Application of electrospray ionization mass spectrometry for analysis of haemoglobin adducts with acrylonitrile.

Journal Article Biochem Soc Trans · May 1994 Full text Link to item Cite

Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

Journal Article Hepatology · February 1994 The pathogenesis of acute fatty liver of pregnancy is unknown, but similarities in the clinical presentation and the histological appearance of the liver with those found in children with metabolic defects in the intramitochondrial beta-oxidation pathway o ... Link to item Cite

Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia.

Journal Article Pediatr Res · January 1994 The purpose of this study was to determine whether treatment with L-carnitine or acetyl-L-carnitine enhances the turnover of lipid or branched-chain amino acid oxidation in patients with inborn errors of metabolism. Increasing i.v. doses of L-carnitine and ... Full text Link to item Cite

NEONATAL SCREENING FOR INBORN-ERRORS OF METABOLISM BY AUTOMATED DYNAMIC LIQUID SECONDARY-ION TANDEM MASS-SPECTROMETRY

Conference NEW HORIZONS IN NEONATAL SCREENING · January 1, 1994 Link to item Cite

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

Journal Article Am J Hum Genet · May 1993 Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is a disorder of fatty acid catabolism, with autosomal recessive inheritance. The disease is characterized by episodic illness associated with potentially fatal hypoglycemia and has a relatively ... Link to item Cite

Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia.

Journal Article J Inherit Metab Dis · 1993 Acylcarnitines were assayed in amniotic fluid by isotope dilution tandem mass spectrometry. Control values for propionylcarnitine, C4 and C5 acylcarnitines were established. Propionylcarnitine was elevated by a factor of 5 relative to controls in the amnio ... Full text Link to item Cite

Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry.

Journal Article Clin Chem · January 1993 A new method for quantifying specific amino acids in small volumes of plasma and whole blood has been developed. Based on isotope-dilution tandem mass spectrometry, the method takes only a few minutes to perform and requires minimal sample preparation. The ... Link to item Cite

Dietary supplement L-carnitine: Analysis of different brands to determine bioavailability and content

Journal Article Clinical Research and Regulatory Affairs · January 1, 1993 Cite

Automated analysis for free and short-chain acylcarnitine in plasma with a centrifugal analyzer.

Journal Article Clin Chem · November 1992 We describe a fully automated, spectrophotometric assay of free and total carnitine in plasma ultrafiltrates. The method, suitable for routine application in most hospital laboratories, incorporates the hydrolysis of acylcarnitines to free carnitine within ... Link to item Cite

Glutaric aciduria type I: unusual biochemical presentation.

Journal Article J Pediatr · July 1992 We describe a patient with glutaryl-coenzyme A dehydrogenase deficiency, demonstrated by a residual enzyme activity of only 1% in cultured fibroblasts. Although the clinical presentation was typical of glutaric aciduria type I, the urine concentrations of ... Full text Link to item Cite

Anoxia induces phospholipase A2 activation in rabbit renal proximal tubules.

Journal Article Am J Physiol · March 1992 Phospholipase A2 (PLA2) activation during anoxic cell injury was determined by use of a variety of approaches in rabbit proximal renal tubules. Arachidonic acid (AA) mass release increased from 4 +/- 1 (normoxia control) to 40 +/- 6 ng/mg protein after 20 ... Full text Link to item Cite

Formation of a free acyl adenylate during the activation of 2-propylpentanoic acid. Valproyl-AMP: a novel cellular metabolite of valproic acid.

Journal Article J Biol Chem · February 15, 1992 A study of the activation of valproic acid (2-n-propylpentanoic acid) by a soluble extract of rat liver mitochondria in the presence of ATP, CoASH, and MgCl2 revealed that, in addition to valproyl-CoA, an unknown UV-absorbing compound is formed which is th ... Link to item Cite

Rapid optimization of enzyme substrates using defined substrate mixtures.

Journal Article J Biol Chem · January 25, 1992 A strategy is described for the rapid optimization of kcat/Km for protease substrates. Selected positions of a given peptide substrate sequence are varied through synthesis with mixtures of amino acids. Incubation of the resulting peptide mixture with the ... Link to item Cite

Letter to the editor

Journal Article Fetal and Pediatric Pathology · January 1, 1992 Full text Cite

Analysis of pesticides using liquid chromatography/atmospheric‐pressure chemical ionization mass spectrometry

Journal Article Rapid Communications in Mass Spectrometry · January 1, 1992 Seventeen pesticides in five chemical classes (triazines, phenylureas, carbamates, organophosphates, miscellaneous) from the US Environmental Protection Agency's National Pesticide Survey of groundwater contaminants were selected for analysis by atmospheri ... Full text Cite

The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders.

Journal Article Prog Clin Biol Res · 1992 Link to item Cite

Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant alleles.

Journal Article Prog Clin Biol Res · 1992 Link to item Cite

Significance of bound glutarate in the diagnosis of glutaric aciduria type I.

Journal Article J Inherit Metab Dis · 1992 Full text Link to item Cite

The analysis of diagnostic markers of genetic disorders in human blood and urine using tandem mass spectrometry with liquid secondary ion mass spectrometry

Journal Article International Journal of Mass Spectrometry and Ion Processes · December 16, 1991 A method has been developed for the rapid diagnosis of metabolic diseases based on the analysis of characteristic metabolites in body fluids by fast atom bombardment or liquid secondary ion tandem mass spectrometry (FAB-MS-MS or LSIMS-MS). Acylcarnitine pr ... Full text Cite

Biomedical applications of high-performance liquid chromatography-mass spectrometry with continuous-flow fast atom bombardment.

Journal Article J Chromatogr · January 2, 1991 This report describes the application of high-performance liquid chromatography combined with continuous-flow fast atom bombardment mass spectrometry to analytical problems in the biomedical laboratory. Applications include the compound-specific detection ... Full text Link to item Cite

Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling.

Journal Article Pediatr Pathol · 1991 Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inherited disorder of fatty acid oxidation associated with sudden death in infants and, in its fulminant form(s), a Reye-like syndrome. In an 18-month-old female who died suddenly and unexpectedly ... Full text Link to item Cite

Mass spectrometry.

Journal Article Anal Chem · June 15, 1990 Link to item Cite

Combined high-performance liquid chromatographic-continuous-flow fast atom bombardment mass spectrometric analysis of acylcoenzyme A compounds.

Journal Article J Chromatogr · May 18, 1990 A high-performance liquid chromatographic method for the analysis of coenzyme A thioesters which employs continuous-flow fast atom bombardment mass spectrometric detection is presented. The chromatographic system utilizes gradient elution with reversed-pha ... Full text Link to item Cite

2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation.

Journal Article J Clin Invest · May 1990 Several inherited disorders of fatty acid beta-oxidation have been described that relate mainly to saturated precursors. This study is the first report of an enzyme defect related only to unsaturated fatty acid oxidation and provides the first in vivo evid ... Full text Link to item Cite

Quantitative assay of free and total carnitine using tandem mass spectrometry.

Journal Article Clin Chim Acta · January 31, 1990 A new, specific method for isotope dilution assay of total and free carnitine in urine has been developed. The method utilizes fast atom bombardment ionization with tandem mass spectrometry and requires minimal sample preparation. It compared well with rad ... Full text Link to item Cite

Mass Spectrometry

Journal Article Analytical Chemistry · January 1, 1990 Full text Cite

Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.

Journal Article J Inherit Metab Dis · 1990 In order to determine which are useful early diagnostic markers for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, we have analysed urine from an asymptomatic neonate. Profiling of urinary organic acids followed by peak confirmation by electron imp ... Full text Link to item Cite

Carnitine homeostasis in the organic acidurias.

Journal Article Prog Clin Biol Res · 1990 The detection of acylcarnitines by FAB-MS in human physiological fluids has added another valuable diagnostic tool for the recognition of specific metabolic diseases. The newly developed technique of FAB-MS/MS, which embodies the principles of tandem mass ... Link to item Cite

Identification of phenylpropionylcarnitine, a new metabolite of phenylpropionic acid, in a patient with medium chain acyl-CoA dehydrogenase deficiency.

Journal Article J Inherit Metab Dis · 1990 Full text Link to item Cite

Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism.

Journal Article J Inherit Metab Dis · 1990 Full text Link to item Cite

A murine model for short-chain acyl-CoA dehydrogenase deficiency.

Journal Article Prog Clin Biol Res · 1990 Link to item Cite

Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue.

Journal Article Anal Biochem · August 1, 1989 Using a precursor-ion scan function on a triple quadrupole mass spectrometer, acylcarnitines were detected in the target matrices at or below concentrations of 1 nmol per gram by fast atom bombardment mass spectrometry. Acylcarnitine profiles from patients ... Full text Link to item Cite

Parenteral nutrition in propionic and methylmalonic acidemia.

Journal Article J Pediatr · August 1989 Although propionic acidemia and methylmalonic acidemia, two disorders of branched-chain amino acid metabolism often complicated by chronic anorexia and vomiting, are not usually treated with parenteral nutrition for fear of amino acid overload and exacerba ... Full text Link to item Cite

Hepatic monoacylglycerol acyltransferase: ontogeny and characterization of an activity associated with the chick embryo.

Journal Article J Lipid Res · August 1989 Hepatic monoacylglycerol acyltransferase is expressed during the perinatal period in rats and guinea pigs and appears to be related temporally to the availability of fatty acids and to the development of hepatic steatosis. In order to determine when monoac ... Link to item Cite

Effects of intranigral application of clinically-effective anticonvulsants on electroshock-induced seizures.

Journal Article Neuropharmacology · August 1989 The authors sought to determine whether focal application of clinically-effective anticonvulsants to the substantia nigra produced anticonvulsant effects. To this end, the effects of phenobarbital, carbamazepine and phenytoin were examined on the electrosh ... Full text Link to item Cite

Medium-chain acyl-CoA dehydrogenase deficiency.

Journal Article N Engl J Med · May 4, 1989 Full text Link to item Cite

Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.

Journal Article Pediatr Res · January 1989 A murine model for short-chain acyl-coenzyme A dehydrogenase (SCAD) deficiency has been identified and characterized in BALB/cByJ mice. These mice have undetectable SCAD activity, severe organic aciduria; excreting ethylmalonic and methylsuccinic acids and ... Full text Link to item Cite

Application of continuous-flow liquid chromatography/fast-atom bombardment mass spectrometry to the analysis of diagnostic acylcarnitines in human urine.

Journal Article Rapid Commun Mass Spectrom · December 1988 Acylcarnitine profiles of diagnostic value were generated from the equivalent of 0.1 microL of raw urine using the continuous-flow liquid chromatography/fast-atom bombardment mass spectrometry (LC/FAB-MS) interface for sample introduction. Further analysis ... Full text Link to item Cite

Analysis of phenylthiohydantoin amino acid mixtures for sequencing by thermospray liquid chromatography/mass spectrometry.

Journal Article Anal Biochem · November 15, 1988 Phenylthiohydantoin (PTH) amino acids, the derivatives of amino acids liberated in the course of automated N-terminal sequence analysis of peptides and proteins, are most commonly identified by high-performance liquid chromatography. This communication des ... Full text Link to item Cite

Capillary Supercritical Fluid Chromatography—Mass Spectrometry Using A “High Mass” Quadrupole and Splitless Injection

Journal Article Analytical Chemistry · May 1, 1988 Most capillary supercritical fluid chromatography-mass spectrometry (SFC-MS) has been done on instruments of mass range of less than 1500 Da, though SFC Is able to elute species of molecular masses in the thousands of daltons. In addition, splitting Inject ... Full text Cite

Specific identification of synthetic organic chemicals in river water using liquid-liquid extraction and resin adsorption coupled with electron impact, chemical ionization and accurate mass measurement gas chromatography-mass spectrometry analyses

Journal Article Journal of Chromatography A · January 1, 1988 Capillary column gas chromatography-mass spectrometry, utilizing electron impact, chemical ionization and accurate mass determinations, was applied to the broad spectrum analysis of synthetic organic chemicals (SOCs) in a river located in the North Carolin ... Full text Cite

The structure of the molybdenum cofactor. Characterization of di-(carboxamidomethyl)molybdopterin from sulfite oxidase and xanthine oxidase.

Journal Article J Biol Chem · December 5, 1987 A di-(carboxamidomethyl) derivative of molybdopterin, the organic component of the molybdenum cofactor, has been prepared under conditions favoring retention of all of the structural features of the molecule. The specific radioactivity of [1-14C]iodoacetam ... Link to item Cite

Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry.

Journal Article Biomed Environ Mass Spectrom · December 1987 Direct analysis of unpurified urine from patients with beta-ketothiolase deficiency and glutaryl-coenzyme A dehydrogenase deficiency was carried out by methylation and fast atom bombardment mass spectrometry. Previously unidentified signals consistent with ... Full text Link to item Cite

Isotope-dilution assay for urinary methylmalonic acid in the diagnosis of vitamin B12 deficiency. A prospective clinical evaluation.

Journal Article Ann Intern Med · May 1987 Vitamin B12 deficiency is a frequently considered diagnosis for which there is no single, commonly available and accurate test. A urinary methylmalonic acid assay using gas chromatography-mass spectrometry has been proposed as the preferred test. We review ... Full text Link to item Cite

Post-mortem recognition of inherited metabolic disorders from specific acylcarnitines in tissue in cases of sudden infant death.

Journal Article Lancet · February 28, 1987 Full text Link to item Cite

Endogenous catabolism is the major source of toxic metabolites in isovaleric acidemia.

Journal Article J Pediatr · January 1987 A patient with isovaleryl-coenzyme A dehydrogenase deficiency was given a synthetic oral feed containing L-(2H3-methyl)-leucine of high isotopic purity as the only dietary precursor to the defective enzyme. Metabolites derived from this source were readily ... Full text Link to item Cite

Quantitative determination of organic compounds in extracts of activated carbon by means of GC/MS

Journal Article Fresenius' Zeitschrift für Analytische Chemie · January 1, 1987 Use of activated carbon plays a significant role in water technology and analytical chemistry. Therefore determination of substances adsorbed on activated carbon is of special interest. As an example, granulated activated carbon (GAC) from a water treatmen ... Full text Cite

Differentiation of isomeric acylcarnitines using tandem mass spectrometry.

Journal Article Anal Chem · November 1986 Full text Link to item Cite

Enhancement of N-nitrosamine formation on granular-activated carbon from N-methylaniline and nitrite.

Journal Article Environ Sci Technol · October 1, 1986 Full text Link to item Cite

Identification of 3-methylglutarylcarnitine. A new diagnostic metabolite of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.

Journal Article J Clin Invest · April 1986 Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A (CoA) lyase affects the metabolism of leucine as well as ketogenesis. This disorder is one of an increasing list of inborn errors of metabolism that presents clinically like Reye's Syndrome or nonketotic ... Full text Link to item Cite

URINARY METHYLMALONIC ACID ASSAY IN THE DIAGNOSIS OF VITAMIN-B12 DEFICIENCY - THE GOLD STANDARD

Conference CLINICAL RESEARCH · April 1, 1986 Link to item Cite

Rapid detection of argininosuccinic aciduria and citrullinuria by fast atom bombardment and tandem mass spectrometry.

Journal Article Clin Chim Acta · March 16, 1986 Full text Link to item Cite

Analysis of volatile free fatty acids in human urine by capillary column gas chromatography/mass spectrometry.

Journal Article Clin Chim Acta · March 16, 1986 Full text Link to item Cite

Stereospecificity of monoacylglycerol acyltransferase activity from rat intestine and suckling rat liver.

Journal Article J Lipid Res · February 1986 The stereospecificity of monoacylglycerol acyltransferase from rat intestinal mucosa and suckling rat liver microsomes was examined using sn-1,2-diacylglycerol kinase from Escherichia coli. With 2-monooleoyl glycerol and palmitoyl-CoA, 88 and 87.9% of the ... Link to item Cite

Stereoisomer Effects on the Paal-Knorr Synthesis of Pyrroles

Journal Article Journal of Organic Chemistry · January 1, 1986 The neurotoxicity of n-hexane has been postulated to result from the reactivity of its γ-diketone metabolite, 2,5-hexanedione (1), with lysyl amino groups of proteins to form pyrroles (Paal-Knorr synthesis). We have synthesized a series of 3,4-disubstitute ... Full text Cite

Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes.

Journal Article J Pediatr · January 1986 The medium-chain acyl-CoA dehydrogenase (MCAD) deficiency of mitochondrial beta oxidation has been identified in two asymptomatic siblings in a family in which two previous deaths had been recorded, one attributed to sudden infant death syndrome and the ot ... Full text Link to item Cite

URINARY METHYLMALONIC ACID ASSAY IN THE DIAGNOSIS OF VITAMIN-B12 DEFICIENCY - THE GOLD STANDARD

Conference CLINICAL RESEARCH · January 1, 1986 Link to item Cite

ASSAY FOR URINE AND PLASMA OXALATE BY GC/MS ISOTOPE-DILUTION

Conference KIDNEY INTERNATIONAL · January 1, 1986 Link to item Cite

Phagocytic cells synthesize 19-nor-10-keto-25-hydroxyvitamin D3, a metabolite that may induce differentiation of the human monoblastic cell line U937.

Journal Article Proc Natl Acad Sci U S A · December 1985 Phagocytic cells, including normal human blood neutrophils and monocytes, metabolize 25-hydroxyvitamin D3 in vitro to more polar metabolites. Cells of the human monoblastic cell line U937 produced three metabolites when incubated with 25-hydroxyvitamin D3. ... Full text Link to item Cite

Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.

Journal Article Pediatr Res · May 1985 The medium-chain acyl-coA dehydrogenase deficiency is one of several metabolic disorders presenting clinically as Reye syndrome. Evidence is presented for a characteristic organic aciduria that distinguishes this disorder from Reye syndrome and other masqu ... Full text Link to item Cite

Valproylcarnitine: a novel drug metabolite identified by fast atom bombardment and thermospray liquid chromatography-mass spectrometry.

Journal Article Clin Chim Acta · January 15, 1985 Urine samples from three children at different stages of chronic valproate therapy were partially purified using a cation exchange column. A signal consistent with either valproylcarnitine or octanoylcarnitine was observed in one of these extracts by direc ... Full text Link to item Cite

QUANTITATIVE ANALYSIS OF FORMALDEHYDE CONDENSATES IN THE VAPOR STATE.

Journal Article Advances in Chemistry Series · January 1, 1985 Quantitative analysis of vapor phase formaldehyde condensates with water and methanol was performed by reaction with N,O-bis-(trimethylsilyl)trifluoroacetamide to form trimethylsilyl derivatives of the condensates, which were then analyzed by capillary gas ... Full text Cite

LOW SERUM VITAMIN-B12 LEVELS - DO THEY DENOTE DEFICIENCY

Conference CLINICAL RESEARCH · January 1, 1985 Link to item Cite

RELIABLE MEASUREMENT OF URINE AND PLASMA OXALATE BY GC/MS

Conference KIDNEY INTERNATIONAL · January 1, 1985 Link to item Cite

L-carnitine therapy in isovaleric acidemia.

Journal Article J Clin Invest · December 1984 Isovaleric acidemia, resulting from isovaleryl-coenzyme A dehydrogenase deficiency, is associated with marked reduction of free carnitine in both plasma and urine. Fast atom bombardment-mass spectrometry, hydrolysis, and gas chromatography/mass spectrometr ... Full text Link to item Cite

Quantitative analysis of gas-phase formaldehyde molecular species at equilibrium with formalin solution.

Journal Article Anal Chem · December 1984 Full text Link to item Cite

QUALITATIVE AND QUANTITATIVE ANALYSIS OF SYNTHETIC ORGANIC POLLUTANTS IN RIVER WATER BY GC/MS.

Journal Article Annual Conference on Mass Spectrometry and Allied Topics · December 1, 1984 The growing demand for drinking water in developing areas of the country has resulted in the consideration of unprotected supplies as possible potable water sources. One such example is a new reservoir fed by a North Carolina local river (the Haw River) wh ... Cite

IDENTIFICATION AND QUANTITATIVE ANALYSIS OF ACYLCARNITINES IN HUMAN URINE BY THERMOSPRAY HPLC/MS.

Journal Article Annual Conference on Mass Spectrometry and Allied Topics · December 1, 1984 Recent studies have indicated that children with disorders of amino acid and fat metabolism ('organic acidurias') excrete elevated concentrations of short-chain acylcarnitine. Urine samples were passed over Dowex-50 (H** plus form) and, after washing with ... Cite

GC/MS ANALYSIS OF FREE SHORT CHAIN CARBOXYLIC ACIDS BY ON-COLUMN INJECTION ON A FUSED SILICA CAPILLARY COLUMN.

Journal Article Annual Conference on Mass Spectrometry and Allied Topics · December 1, 1984 The quantitation of free short chain (C//2-C//8) monocarboxylic acids (FFAS) in physiological fluids is difficult. This is due primarily to adsorption of these extremely polar compounds on glassware, GC injector and column surfaces. In an attempt to overco ... Cite

CHARACTERIZATION OF COENZYME A AND ITS ACYL DERIVATIVES BY FAB-MS/MS.

Journal Article Annual Conference on Mass Spectrometry and Allied Topics · December 1, 1984 Many vital steps in intermediary metabolism require coenzyme A as a cofactor. These include the mitochondrial beta -oxidation pathway for breakdown of fatty acids and most stages of the degradation of branched-chain amino acids (Leu, Ile, Val). Fast atom b ... Cite

L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia.

Journal Article J Clin Invest · June 1984 Treatment with L-carnitine greatly enhanced the formation and excretion of short-chain acylcarnitines in three patients with propionic acidemia and in three normal controls. The use of fast atom bombardment mass spectrometry and linked scanning at constant ... Full text Link to item Cite

Thermospray liquid chromatography/mass spectrometry for the analysis of L-carnitine and its short-chain acyl derivatives.

Journal Article Anal Biochem · June 1984 A method utilizing thermospray high-performance liquid chromatography/mass spectrometry for the separation and direct analysis of carnitine, acetylcarnitine, and propionylcarnitine is described. On-column analysis of mixtures of the acylcarnitines with the ... Full text Link to item Cite

Application of high resolution fast atom bombardment and constant B/E ratio linked scanning to the identification and analysis of acylcarnitines in metabolic disease.

Journal Article Biomed Mass Spectrom · May 1984 Acylcarnitines, a biologically important group of metabolites which have thus far eluded characterization by mass spectrometry, exhibit very intense fast atom bombardment mass spectra dominated by parent cations. The combination of high resolution selected ... Full text Link to item Cite

L-Carnitine insufficiency in disorders of organic acid metabolism: response to L-carnitine by patients with methylmalonic aciduria and 3-hydroxy-3-methylglutaric aciduria.

Journal Article J Inherit Metab Dis · 1984 Full text Link to item Cite

Characterization and Determination of Formaldehyde Oligomers by Capillary Column Gas Chromatography

Journal Article Analytical Chemistry · January 1, 1984 A method has been developed for characterization of formaldehyde oligomers In methanol-water solutions as their tri-methylsllyl derivatives, utilizing capillary gas chromatography with ammonia chemical Ionization mass spectrometry. The Me3Sl oligomers form ... Full text Cite

FORMALDEHYDE CONDENSATION PRODUCTS IN THE GAS PHASE.

Journal Article National Meeting - American Chemical Society, Division of Environmental Chemistry · January 1, 1984 Cite

ANALYSIS OF ORGANIC COMPOUNDS ADSORBED ON GRANULAR ACTIVATED CARBON FILTERS USED IN TREATMENT PLANTS.

Journal Article Water Chlorination: Environmental Impact and Health Effects · December 1, 1983 Cite

CHARACTERIZATION OF FORMALDEHYDE OLIGOMERS BY CAPILLARY GC/AMMONIA CI.

Journal Article Annual Conference on Mass Spectrometry and Allied Topics · December 1, 1983 Cite

ANALYSIS OF ORGANIC MATERIAL ACCUMULATED ON GRANULAR ACTIVATED CARBON FILTERS USED IN DRINKING WATER TREATMENT.

Journal Article Annual Conference on Mass Spectrometry and Allied Topics · December 1, 1983 Cite

ENHANCEMENT OF N-NITROSAMINE FORMATION ON GRANULAR ACTIVATED CARBON FROM N-METHYL ANILINE.

Journal Article National Meeting - American Chemical Society, Division of Environmental Chemistry · December 1, 1983 Cite

ORGANIC REACTION PRODUCTS OF CHLORINE DIOXIDE AND NATURAL AQUATIC FULVIC ACIDS.

Journal Article Water Chlorination: Environmental Impact and Health Effects · December 1, 1983 Cite

CHLORINATION PRODUCTS FROM AQUATIC HUMIC MATERIAL AT NEUTRAL pH.

Journal Article Water Chlorination: Environmental Impact and Health Effects · December 1, 1983 Cite

CHARACTERIZATION AND ANALYSIS OF ACYLCARNITINES BY FAB AND B/E LINKED SCANNING: APPLICATION TO METABOLIC DISEASE.

Journal Article Annual Conference on Mass Spectrometry and Allied Topics · December 1, 1983 Cite

BY-PRODUCTS OF CHLORINATION: SPECIFIC COMPOUNDS AND THEIR RELATIONSHIP TO TOTAL ORGANIC HALOGEN.

Journal Article National Meeting - American Chemical Society, Division of Environmental Chemistry · December 1, 1983 Cite

Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups.

Journal Article Arch Dis Child · November 1983 Patients with methylmalonic aciduria have an excessive intramitochondrial accumulation of acylcoenzyme A compounds that may reduce the availability of free coenzyme A (CoA) for normal metabolic requirements, producing profound metabolic disturbances. Givin ... Full text Link to item Cite

Identity and yields of major halogenated products of aquatic fulvic acid chlorination.

Journal Article Environ Sci Technol · October 1, 1983 Full text Link to item Cite

SPECIFIC IDENTIFICATION OF ORGANIC POLLUTANTS IN HAW RIVER WATER USING GAS CHROMATOGRAPHY/MASS SPECTROMETRY.

Journal Article Report - Water Resources Research Institute of The University of North Carolina · August 1, 1983 The study described investigates organic pollution in the Haw River of North Carolina utilizing current advanced methods for extraction and concentration of aqueous trace organic pollutants combined with identification by Gas Chromatography/Mass Spectromet ... Cite

SPECIFIC IDENTIFICATION OF ORGANIC POLLUTANTS IN HAW RIVER WATER USING GAS CHROMATOGRAPHY/MASS SPECTROMETRY.

Journal Article Report - Water Resources Research Institute of The University of North Carolina · January 1, 1983 The study described investigates organic pollution in the Haw River of North Carolina utilizing current advanced methods for extraction and concentration of aqueous trace organic pollutants combined with identification by Gas Chromatography/Mass Spectromet ... Cite

Reaction products of aquatic humic substances with chlorine.

Journal Article Environ Health Perspect · December 1982 A major concern of the chlorination of aquatic humic materials is the ubiquitous production of trihalomethanes. A large number of other chlorinated organic compounds, however, have been shown to be formed by chlorine's reaction with humic substances. In th ... Full text Link to item Cite

Structural characterization of aquatic humic material.

Journal Article Environ Sci Technol · July 1, 1982 Full text Link to item Cite

The structures of dermostatins A and B 1,2.

Journal Article Hindustan Antibiot Bull · 1980 Link to item Cite

The fragmentation of stereoisomeric androstanediol t‐butyldimethylsilyl ethers. A study by linked field scanning

Journal Article Biological Mass Spectrometry · January 1, 1979 The major fragmentation pathways of eight isomeric androstane‐3,17‐diols, as their bis‐t‐butyldimethylsilyl ethers, were elucidated by linked scanning of the magnetic and electric fields in a double focusing mass spectrometer. Four competing pathways were ... Full text Cite

Selected metastable peak monitoring: a new specific technique in quantitative gas chromatography mass spectrometry.

Journal Article Biomed Mass Spectrom · September 1978 Using the combined electrostatic analyser-magnet scan facility of a double focusing mass spectrometer, the daughter ion peak for the fragmentation, [M-57]+ leads to [M-57-76]+, of a 5alpha-dihydrotestosterone tert-butyl-dimethylsilyl ether was monitored du ... Full text Link to item Cite

New techniques in quantitative mass spectrometry.

Journal Article J Reprod Fertil · September 1977 Full text Link to item Cite

Berninamycin. 2. Products of acidic hydrolysis, methanolysis, and acetolysis of berninamycin A1.

Journal Article J Am Chem Soc · December 8, 1976 Full text Link to item Cite

In vitro synthesis of steroids by a feminising adrenocortical carcinoma: effect of prolactin and other protein hormones.

Journal Article Acta Endocrinol (Copenh) · July 1976 The study describes the effects of ACTH, prolactin and other protein hormones on the synthesis and secretion of steroid hormones by tissue from a feminising adrenocortical carcinoma removed from a post-menopausal female. Steroid production by the tissue wa ... Full text Link to item Cite

Proceedings: Hormonal control of steroid synthesis by a feminizing adrenal tumour.

Journal Article J Endocrinol · November 1975 Link to item Cite

Thin‐layer chromatography and high resolution selected ion monitoring for the analysis of C19 steroids in human hyperplastic prostate tissue

Journal Article Biological Mass Spectrometry · January 1, 1975 Interfering nonpolar lipid material was removed from the acetone extracts of several samples of benign hyperplastic prostate tissue. Endogenous steroids were separated by preparative thin‐layer chromatography into fractions containing testosterone, 5α‐dihy ... Full text Cite

Determination of hormonal steroid concentrations in biological extracts by high resolution mass fragmentography.

Journal Article J Steroid Biochem · 1975 Full text Link to item Cite

Alkaloids of some African, Asian, Polynesian and Australian species of Erythrina.

Journal Article Lloydia · December 1974 Link to item Cite

Alkaloids of American species of Erythrina.

Journal Article Lloydia · December 1974 Link to item Cite

Proceedings: Measurement of endogenous steroid levels in human breast tumours by mass fragmentography.

Journal Article J Endocrinol · May 1974 Link to item Cite

Isolation, gas chromatography-mass spectrometry, and structures of new alkaloids from Erythrina folkersii Krukoff and Moldenke and Erythrina salviiflora Krukoff and Barneby.

Journal Article J Am Chem Soc · March 20, 1974 Full text Link to item Cite

The field ionization spectra of some natural coumarins.

Journal Article Biomed Mass Spectrom · February 1974 Full text Link to item Cite

Letter: Polyene antibiotics. VI. The structures of dermostatins A and B.

Journal Article J Antibiot (Tokyo) · August 1973 Full text Link to item Cite

Isocoproporphyrin: nuclear-magnetic-resonance-and mass-spectral methods for the determination of porphyrin structure.

Journal Article Biochem J · February 1973 The use of ;shift reagents' in the determination of n.m.r. spectra, and of reductive alkylation in combination with g.l.c.-mass spectrometry, facilitates assignment of the order of substituents in porphyrins, and the application of these new techniques to ... Full text Link to item Cite

Polyene antibiotics. IV. Structure of chainin.

Journal Article J Am Chem Soc · June 14, 1972 Full text Link to item Cite

Mass spectrometry of N-methylated peptide derivatives.

Journal Article Nature · August 3, 1968 Full text Link to item Cite