2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen.
WMJ., Feb;106(1):12-5 (2007)
Pancreatic insufficiency in Toriello-Carey syndrome: Report of a second patient
American Journal of Medical Genetics
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease
Genetics in Medicine
Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
American Journal of Human Genetics
Ammonia control in children with urea cycle disorders (UCDs); phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate
Molecular Genetics and Metabolism
Agalsidase alfa and kidney dysfunction in Fabry disease
JASN: Journal of the American Society of Nephrology
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.
Am. J. Hum. Genet., Feb;90(2):282-9 (2012)
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.
Hum. Mutat., Jan;32(1):E1976-84 (2011)
Identification of urine organic acids for the detection of inborn errors of metabolism using urease and gas chromatography-mass spectrometry (GC-MS).
Methods Mol. Biol., 603:433-43 (2010)
National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary.
Clin. Chem., Sep;55(9):1615-26 (2009)
Creating genetics-based infusion centers: a case study of two models.
Genet. Med., Aug;10(8):626-32 (2008)
Rescue from neonatal death in the murine model of hereditary tyrosinemia by glutathione monoethylester and vitamin C treatment.
Mol. Genet. Metab., Mar;93(3):306-13 (2008)
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.
N. Engl. J. Med., May;356(22):2282-92 (2007)
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
J. Inherit. Metab. Dis., 29(2-3):370-7 (2006 Apr-Jun)
Urea cycle disorders: clinical presentation outside the newborn period.
Crit Care Clin., Oct;21(4 Suppl):S9-17 (2005)
Genetic counseling issues in urea cycle disorders.
Crit Care Clin., Oct;21(4 Suppl):S37-44 (2005)
Nutritional management of urea cycle disorders.
Crit Care Clin., Oct;21(4 Suppl):S27-35 (2005)
Considerations in the difficult-to-manage urea cycle disorder patient.
Crit Care Clin., Oct;21(4 Suppl):S19-25 (2005)
Unmasked adult-onset urea cycle disorders in the critical care setting.
Crit Care Clin., Oct;21(4 Suppl):S1-8 (2005)
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study.
J Magn Reson Imaging., Oct;20(4):674-83 (2004)
The call from the newborn screening laboratory: frustration in the afternoon.
Pediatr. Clin. North Am., Jun;51(3):803-18, xii (2004)
Evaluation of liver fatty acid oxidation in the leptin-deficient obese mouse.
Mol. Genet. Metab., Mar;75(3):219-26 (2002)
Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.
Hum. Mol. Genet., Sep;10(19):2069-77 (2001)
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
Pediatr. Res., Jan;49(1):18-23 (2001)
Lessons learned from the mouse model of short-chain acyl-CoA dehydrogenase deficiency.
Adv. Exp. Med. Biol., 466:395-402 (1999)
Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy.
Neurology., Jan;52(2):366-72 (1999)
Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation.
Proc. Natl. Acad. Sci. U.S.A., Dec;95(26):15592-7 (1998)
Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities.
J. Pediatr., Nov;133(5):697-700 (1998)
Functional correction of short-chain acyl-CoA dehydrogenase deficiency in transgenic mice: implications for gene therapy of human mitochondrial enzyme deficiencies.
Hum. Mol. Genet., Sep;6(9):1451-5 (1997)
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
Nat. Genet., Nov;14(3):361-5 (1996)
Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients.
Am. J. Hum. Genet., Aug;57(2):273-83 (1995)
Transient improvement of congenital lactic acidosis in a male infant with pyruvate decarboxylase deficiency treated with dichloroacetate.
J. Pediatr., Sep;123(3):427-30 (1993)
Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients.
J. Clin. Invest., Nov;90(5):1679-86 (1992)
Short-chain acyl-coenzyme A dehydrogenase activity, antigen, and biosynthesis are absent in the BALB/cByJ mouse.
Pediatr. Res., Jun;31(6):552-6 (1992)
A case of glutaric acidemia type II (severe multiple acyl-CoA dehydrogenation disorder) with subsequent prenatal exclusion in a sibling.
J Perinatol., Sep;11(3):227-30 (1991)
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Biochem. Biophys. Res. Commun., Aug;171(1):498-505 (1990)
A murine model for short-chain acyl-CoA dehydrogenase deficiency.
Prog. Clin. Biol. Res., 321:427-34 (1990)
Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.
Pediatr. Res., Jan;25(1):38-43 (1989)
Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segment.
Clin. Genet., Jun;31(6):381-5 (1987)
Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders.
Pediatr. Res., Apr;21(4):371-6 (1987)
Complementation analysis of fatty acid oxidation disorders.
J. Clin. Invest., Jan;79(1):59-64 (1987)
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.
Pediatrics., Dec;78(6):1052-7 (1986)
Fatal infantile cardiac glycogenosis without acid maltase deficiency presenting as congenital hydrops.
Eur. J. Pediatr., Jun;142(2):150 (1984)