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)