Two inborn errors of metabolism in a newborn: Glutaric aciduria type I combined with isobutyrylglycinuria

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +14

Glutaric aciduria; A “new” disorder of amino acid metabolism

Stephen I. Goodman, Sanford P. Markey, Paul G. Moe et al. · Biochemical Medicine · 1975 · 337 citations

Life Sciences, Biochemistry, Molecular Medicine +12

Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry

Donald H. Chace, Steven L Hillman, Johan L.K. Van Hove et al. · Clinical Chemistry · 1997 · 284 citations · Full text

Life Sciences, Biochemistry, Clinical Biochemistry +14

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg et al. · Pediatric Research · 2006 · 271 citations · Full text

Medicine, Child Health, Pediatrics +3

Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)

S. Kölker, E. Christensen, James V. Leonard et al. · Journal of Inherited Metabolic Disease · 2007 · 146 citations

Life Sciences, Biochemistry, Pediatrics +6