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

Gerbert A. Jansen, Rob Oftnan, Sacha Ferdinandusse, +8

Nature Genetics

BiologyGenetic DisorderNatural SciencesGeneticsRefsum Disease +5

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, +5

Journal of Inherited Metabolic Disease

Metabolic SyndromeAldehyde DehydrogenaseMetabolic DisorderBiochemistryMitochondrial Function +8

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

Phillip L. Pearl, K. Michael Gibson, Zenaide Quezado, +13

Neurology

Glutaric aciduria type I: Pathomechanisms of neurodegeneration

Kurt Ullrich, B. Flott‐Rahmel, P. Schluff, +8

Journal of Inherited Metabolic Disease

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

K. Michael Gibson, Lawrence Sweetman, William L. Nyhan, +4

Clinica Chimica Acta

BiosynthesisGamma-aminobutyric Acid MetabolismAldo-keto ReductaseBiochemistryCellular Enzymology +8

Clinical features and X-inactivation in females heterozygous for creatine transporter defect

JM van de Kamp, GMS Mancini, PJW Pouwels, +7

Clinical Genetics

Endovascular Aneurysm Repair of Aortoiliac Aneurysms with an Iliac Side-branched Stent graft: Studying the Morphological Applicability of the Cook Device

Daphne Gray, Robert Shahverdyan, C. Jakobs, +2

European Journal of Vascular and Endovascular Surgery

Endovascular TechniqueVascular SurgeryCook DeviceSurgeryMorphological Applicability +3

Nerve cell lesions caused by 3‐hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I

B. Flott‐Rahmel, Claus Falter, P. Schluff, +7

Journal of Inherited Metabolic Disease

Molecular NeurosciencePhysiologyNeurologyNerve Cell LesionsNeuropathology +3

Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase

K. Michael Gibson, D. S. M. Schor, Maneesh Gupta, +10

Journal of Neurochemistry

Glutaryl-CoA Dehydrogenase Deficiency: Region-Specific Analysis of Organic Acids and Acylcarnitines in<i>post mortem</i>Brain Predicts Vulnerability of the Putamen

S. Kölker, Georg F. Hoffmann, D. S. M. Schor, +10

Neuropediatrics

GlucocorticoidGlutaryl-coa Dehydrogenase DeficiencySocial SciencesOxidative StressRegion-specific Analysis +17