C. Jakobs

Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

Gerbert A. Jansen, Rob Oftnan, Sacha Ferdinandusse et al. · Nature Genetics · 1997 · 304 citations

Biology, Genetic Disorder, Natural Sciences +7

Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acid<i>β</i>‐oxidation

R. J. A. Wanders, Lodewijk IJlst, A. H. van Gennip et al. · Journal of Inherited Metabolic Disease · 1990 · 121 citations

Metabolic Syndrome, Aldehyde Dehydrogenase, Metabolic Disorder +10

Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency

Phillip L. Pearl, K. Michael Gibson, Zenaide Quezado et al. · Neurology · 2009 · 98 citations · Full text

Glutaric aciduria type I: Pathomechanisms of neurodegeneration

Kurt Ullrich, B. Flott‐Rahmel, P. Schluff et al. · Journal of Inherited Metabolic Disease · 1999 · 91 citations · Full text

Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism

K. Michael Gibson, Lawrence Sweetman, William L. Nyhan et al. · Clinica Chimica Acta · 1983 · 85 citations

Biosynthesis, Gamma-aminobutyric Acid Metabolism, Aldo-keto Reductase +10