Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.
Mol. Genet. Metab., May;103(1):92-5 (2011)
Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.
Mol. Genet. Metab., Jan;105(1):126-31 (2012)
Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency.
Mol. Genet. Metab., May;106(1):104-7 (2012)
Carnitine deficiency in pregnancy.
Obstet Gynecol., Aug;110(2 Pt 2):480-2 (2007)
Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.
Neuromuscul. Disord., May;19(5):352-6 (2009)
Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II.
Mol. Genet. Metab., Dec;98(4):406-11 (2009)
Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.
Mol. Genet. Metab., Jun;100(2):136-42 (2010)
Initial experience in the treatment of inherited mitochondrial disease with EPI-743.
Mol. Genet. Metab., Jan;105(1):91-102 (2012)
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Mol. Genet. Metab., May;106(1):55-61 (2012)
Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis.
Mol. Genet. Metab., Jan;87(1):48-53 (2006)