"Induction of oxidative stress in brain of glutaryl-CoA dehydrogenase deficient mice by acute lysine administration," Molecular Genetics and Metabolism (Vol: 106, Issue: 1, Page 31-38) - 2012
"Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant," Molecular Genetics and Metabolism (Vol: 104, Issue: 3, Page 261-264) - 2011
"Diagnosis and management of glutaric aciduria type I - Revised recommendations," Journal of Inherited Metabolic Disease (Vol: 34, Issue: 3, Page 677-694) - 2011
"Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells," Journal of Biological Chemistry (Vol: 286, Issue: 20, Page 17777-17784) - 2011
"Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I," Brain (Vol: 134, Issue: 1, Page 157-170) - 2011
"Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska native infants," Journal of Pediatrics (Vol: 158, Issue: 1, Page 46-51) - 2011
"Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant," Pediatrics (Vol: 126, Issue: 5, Page 945-951) - 2010
"Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice," Blood (Vol: 115, Issue: 16, Page 3374-3381) - 2010
"Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1," Biochimica et Biophysica Acta - Molecular Basis of Disease (Vol: 1782, Issue: 6, Page 385-390) - 2008
"3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3," Journal of Molecular Medicine (Vol: 85, Issue: 7, Page 763-770) - 2007
"Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)," Journal of Inherited Metabolic Disease (Vol: 30, Issue: 1, Page 5-22) - 2007
"Lysine intake and neurotoxicity in glutaric aciduria type I: Towards a rationale for therapy? [1]," Brain (Vol: 129, Issue: 8, Page E54.1-E54.3) - 2006
"Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency," Pediatric Research (Vol: 59, Issue: 6, Page 840-847) - 2006
"Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency," Journal of Neurochemistry (Vol: 97, Issue: 3, Page 899-910) - 2006
"Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: A role for glutaryl-coenzyme A," Journal of Biological Chemistry (Vol: 280, Issue: 23, Page 21830-21836) - 2005
"The mitochondrial ABC transporter Atm1p functions as a homodimer," FEBS Letters (Vol: 569, Issue: 1-3, Page 65-69) - 2004
"Animal models for glutaryl-CoA dehydrogenase deficiency," Journal of Inherited Metabolic Disease (Vol: 27, Issue: 6, Page 813-818) - 2004
"Challenges for basic research in glutaryl-CoA dehydrogenase deficiency," Journal of Inherited Metabolic Disease (Vol: 27, Issue: 6, Page 843-849) - 2004
"Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I," Journal of Inherited Metabolic Disease (Vol: 27, Issue: 6, Page 829-834) - 2004
"Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency," Journal of Inherited Metabolic Disease (Vol: 27, Issue: 6, Page 805-812) - 2004
