Glutaryl-CoA Dehydrogenase Deficiency Presenting as 3-Hydroxyglutaric Aciduria

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

Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis.

Georg F. Hoffmann, S. Aramaki, Ellen Blum‐Hoffmann et al. · Clinical Chemistry · 1989 · 204 citations

Life Sciences, Biochemistry, Chemistry +15

Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts.

Frank E. Frerman, Stephen I. Goodman · Proceedings of the National Academy of Sciences · 1985 · 154 citations · Full text

Life Sciences, Biochemistry, Genetics +14

Ethylmalonic-Adipic Aciduria

S Mantagos, Myron Genel, Kay Tanaka · Journal of Clinical Investigation · 1979 · 109 citations · Full text

Life Sciences, Biochemistry, Cellular Metabolism +15

Glutaryl-Coenzyme A Dehydrogenase Deficiency: A Distinct Encephalopathy

Georg F. Hoffmann, Friedrich K. Trefz, P. G. Barth et al. · PEDIATRICS · 1991 · 100 citations

Medicine, Neurology, Pediatrics +17