Mol Genet Metab

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  Publication Venue For

  • Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin..  139:107605. 2023
  • Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource..  138:107525. 2023
  • The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?.  136:4-21. 2022
  • Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy..  135:350-356. 2022
  • Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening..  135:179-185. 2022
  • MPS VI associated ocular phenotypes in an MPS VI murine model and the therapeutic effects of odiparcil treatment..  135:143-153. 2022
  • Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus..  135:154-162. 2022
  • Metabolic perturbations mediated by propionyl-CoA accumulation in organs of mouse model of propionic acidemia..  134:257-266. 2021
  • Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature..  134:223-234. 2021
  • Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2-/- mouse model..  133:269-276. 2021
  • Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease..  134:53-59. 2021
  • Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX..  131:299-305. 2020
  • A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females..  130:209-214. 2020
  • Gaucher disease and SARS-CoV-2 infection: Emerging management challenges..  130:164-169. 2020
  • Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease..  129:73-79. 2020
  • Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease..  129:67-72. 2020
  • Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study..  129:80-90. 2020
  • Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments..  129:3-12. 2020
  • [Not Available]..  127:346-354. 2019
  • Bone manifestations in neuronopathic Gaucher disease while receiving high-dose enzyme replacement therapy..  126:157-161. 2019
  • Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant..  126:106-116. 2019
  • Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation..  123:92-96. 2018
  • Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy..  123:85-91. 2018
  • Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease..  122:189-197. 2017
  • Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant..  122:99-107. 2017
  • Renal endoplasmic reticulum stress is coupled to impaired autophagy in a mouse model of GSD Ia..  122:95-98. 2017
  • High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient..  122:76-79. 2017
  • Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up..  121:127-137. 2017
  • The emerging phenotype of late-onset Pompe disease: A systematic literature review..  120:163-172. 2017
  • Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation..  120:96-100. 2017
  • 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative..  119:75-82. 2016
  • Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion..  119:91-99. 2016
  • Physical therapy management of infants and children with hypophosphatasia..  119:14-19. 2016
  • Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry..  119:151-159. 2016
  • Solid organ transplantation in primary mitochondrial disease: Proceed with caution..  118:178-184. 2016
  • New observation of sialuria prompts detection of liver tumor in previously reported patient..  118:92-99. 2016
  • Salmeterol enhances the cardiac response to gene therapy in Pompe disease..  118:35-40. 2016
  • Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice..  117:378-382. 2016
  • A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease..  117:114-119. 2016
  • Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction..  117:66-83. 2016
  • Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States..  117:95-103. 2016
  • Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining..  117:120-128. 2016
  • Characterization of gait in late onset Pompe disease..  116:152-156. 2015
  • Successful combined liver/kidney transplantation from a donor with Pompe disease..  115:141-144. 2015
  • Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease..  115:161-167. 2015
  • 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..  114:123-128. 2015
  • Liver transplantation for pediatric metabolic disease..  111:418-427. 2014
  • Mouse model of glycogen storage disease type III..  111:467-476. 2014
  • Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene..  111:309-313. 2014
  • Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry..  113:84-91. 2014
  • Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS..  110:237-240. 2013
  • The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia..  110:275-280. 2013
  • Stbd1 is highly elevated in skeletal muscle of Pompe disease mice but suppression of its expression does not affect lysosomal glycogen accumulation..  109:312-314. 2013
  • Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency..  109:215-217. 2013
  • Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia..  109:161-170. 2013
  • Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics..  109:218-220. 2013
  • Chronic myopathy due to immunoglobulin light chain amyloidosis..  108:249-254. 2013
  • Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III..  108:145-147. 2013
  • Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention..  108:142-144. 2013
  • Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease..  107:469-479. 2012
  • Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa..  107:496-500. 2012
  • Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials..  107:335-344. 2012
  • Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa..  107:456-461. 2012
  • An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell transplantation (HCT)..  107:116-121. 2012
  • Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature..  106:462-469. 2012
  • The impact of antibodies in late-onset Pompe disease: a case series and literature review..  106:301-309. 2012
  • Life with too much polyprenol: polyprenol reductase deficiency..  105:642-651. 2012
  • Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells..  105:677-680. 2012
  • A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots..  105:519-521. 2012
  • Early cognitive development in children with infantile Pompe disease..  105:428-432. 2012
  • β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease..  105:221-227. 2012
  • Atypical immunologic response in a patient with CRIM-negative Pompe disease..  104:583-586. 2011
  • Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency..  104:691-694. 2011
  • The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry..  104:574-582. 2011
  • Increased inspiratory and expiratory muscle strength following respiratory muscle strength training (RMST) in two patients with late-onset Pompe disease..  104:417-420. 2011
  • Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered..  103:362-366. 2011
  • Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle..  103:107-112. 2011
  • Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption..  103:33-37. 2011
  • Pompe disease: design, methodology, and early findings from the Pompe Registry..  103:1-11. 2011
  • Research challenges in central nervous system manifestations of inborn errors of metabolism..  102:326-338. 2011
  • Clinical outcomes following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI..  102:111-115. 2011
  • Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet..  102:214-215. 2011
  • An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions..  104:118-122. 2011
  • Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI..  102:49-56. 2011
  • Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up..  104:48-60. 2011
  • The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives..  104:144-148. 2011
  • Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy..  101:332-337. 2010
  • Hypovitaminosis D in glycogen storage disease type I..  99:434-437. 2010
  • Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants..  99:26-33. 2010
  • Activation of glycolysis and apoptosis in glycogen storage disease type Ia..  97:267-271. 2009
  • Gb(3)/creatinine biomarkers for Fabry disease: issues to consider..  97:237. 2009
  • Mechanism of shortened bones in mucopolysaccharidosis VII..  97:202-211. 2009
  • A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1..  96:164-170. 2009
  • Age-related efficacy with an AAV vector in Fabry disease mice..  96:83-84. 2009
  • Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study..  95:233-235. 2008
  • A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency..  93:363-370. 2008
  • Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting..  93:275-281. 2008