Molecular Genetics and Metabolism


Publication Venue For

  • Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.  124:82-86. 2018
  • Fabry disease revisited: Management and treatment recommendations for adult patients.  123:416-427. 2018
  • 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
  • CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11years of therapy: Clinical, histopathologic, and biochemical findings.  114:233-241. 2015
  • Long-term nonsense suppression therapy moderates MPS I-H disease progression.  111:374-381. 2014
  • The Pex1-G844D mouse: A model for mild human Zellweger spectrum disorder.  111:522-532. 2014
  • Recurrent pancreatitis in ornithine transcarbamylase deficiency.  106:482-484. 2012
  • Anti-α-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry Registry.  105:443-449. 2012
  • The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse.  105:116-125. 2012
  • Corrigendum to "Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation" [Mol. Genet. Metab. 99 (2010) 62-71] (DOI:10.1016/j.ymgme.2009.08.002).  99:439. 2010
  • A validated disease severity scoring system for Fabry disease.  99:283-290. 2010
  • Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.  99:62-71. 2010
  • Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouse.  93:314-322. 2008
  • Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry.  93:112-128. 2008
  • Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid β-oxidation.  85:7-11. 2005
  • Influence of dietary fatty acid chain-length on metabolic tolerance in mouse models of inherited defects in mitochondrial fatty acid β-oxidation.  83:322-329. 2004
  • Evaluation of liver fatty acid oxidation in the leptin-deficient obese mouse.  75:219-226. 2002
  • A multicenter study of women with nonclassical congenital adrenal hyperplasia: Relationship between genotype and phenotype.  71:527-534. 2000
  • Lovastatin therapy for X-linked adrenoleukodystrophy: Clinical and biochemical observations on 12 patients.  69:312-322. 2000
  • Molecular mechanisms of holoprosencephaly.  68:126-138. 1999
  • C-fos mediates cocaine inhibition of NGF-induced PC12 cell differentiation.  64:62-69. 1998
  • Studies of arginine metabolism and salt sensitivity in the Dahl/Rapp rat models of hypertension.  64:80-83. 1998
  • The genetic basis of Rett syndrome: Candidate gene considerations.  64:1-6. 1998
  • International Standard Serial Number (issn)

  • 1096-7192
  • Electronic International Standard Serial Number (eissn)

  • 1096-7206