Sarah Phyllis Young

Journal article Clin Chem · July 2011 Featured Publication 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

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

Journal article Anal Biochem · July 15, 2010 Featured Publication 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

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 Featured Publication 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

Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe disease.

Journal article Mol Ther · February 2010 Featured Publication Infantile Pompe disease progresses to a lethal cardiomyopathy in absence of effective treatment. Enzyme-replacement therapy (ERT) with recombinant human acid alpha-glucosidase (rhGAA) has been effective in most patients with Pompe disease, but efficacy was ... Full text Link to item Cite

Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expression.

Journal article J Gene Med · October 2009 Featured Publication BACKGROUND: Infantile-onset glycogen storage disease type II (GSD-II; Pompe disease; MIM 232300) causes death early in childhood from cardiorespiratory failure in the absence of effective treatment, whereas late-onset Pompe disease causes a progressive ske ... Full text Link to item Cite

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

Journal article Mol Genet Metab · July 2009 Featured Publication 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 Featured Publication 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 Featured Publication 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

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

Journal article J Inherit Metab Dis · April 2009 Featured Publication 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 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

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.

Journal article Mol Genet Metab · December 2008 Featured Publication Benefits of enzyme replacement therapy with Myozyme (alglucosidase alfa), anecdotally reported in late-onset Pompe disease, range from motor and pulmonary improvement in less severely affected patients, to stabilization with minimal improvement in those wi ... Full text Link to item Cite

Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy.

Journal article Mol Ther · August 2008 Featured Publication Glycogen storage disease type II (Pompe disease; MIM 232300) stems from the deficiency of acid alpha-glucosidase (GAA; acid maltase; EC 3.2.1.20), which primarily involves cardiac and skeletal muscles. An adeno-associated virus 2/8 (AAV2/8) vector containi ... Full text Link to item Cite

Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance.

Journal article Am J Hum Genet · November 2007 Featured Publication Pompe disease, which results from mutations in the gene encoding the glycogen-degrading lysosomal enzyme acid alpha -glucosidase (GAA) (also called "acid maltase"), causes death in early childhood related to glycogen accumulation in striated muscle and an ... Full text Link to item Cite

Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II.

Journal article Mol Ther · December 2006 Featured Publication Glycogen storage disease type II (GSD-II; Pompe disease; MIM 232300) is an inherited muscular dystrophy caused by deficiency in the activity of the lysosomal enzyme acid alpha-glucosidase (GAA). We hypothesized that chimeric GAA containing an alternative s ... 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 Featured Publication 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

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 Featured Publication 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

Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.

Journal article Mol Ther · November 2005 Featured Publication Glycogen storage disease type II (GSD-II; Pompe disease) is caused by a deficiency of acid alpha-glucosidase (GAA; acid maltase) and manifests as muscle weakness, hypertrophic cardiomyopathy, and respiratory failure. Adeno-associated virus vectors containi ... 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

Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II.

Journal article Mol Ther · January 2005 Featured Publication Glycogen storage disease type II (GSD-II; Pompe disease) causes death in infancy from cardiorespiratory failure. The underlying deficiency of acid alpha-glucosidase (GAA; acid maltase) can be corrected by liver-targeted gene therapy in GSD-II, if secretion ... 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 Featured Publication 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 Featured Publication 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

Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease.

Journal article Clin Sci (Lond) · December 2001 Featured Publication Adult Refsum disease is an inherited disorder in which phytanic acid accumulates in tissues and serum. Two hypotheses have been proposed to explain the pathogenesis of this condition. The molecular distortion hypothesis suggests that phytanic acid may alte ... 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 Featured Publication 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