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Journal of Inherited Metabolic Disease|September 3, 1999
Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysisJ Zschocke, E Quak, A Knauer, et al.Klinische Padiatrie|March 1, 1993
[Glutaric acidemia/glutaric aciduria I as differential chorea minor diagnosis]R Voll, G F Hoffmann, C G Lipinski, et al.Journal of Inherited Metabolic Disease|October 27, 2004
Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic optionsA P Burlina, G Zara, G F Hoffmann, et al.Journal of Inherited Metabolic Disease|December 22, 1999
Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type II Baric, L Wagner, P Feyh, et al.Neuropediatrics|April 29, 1998
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolismK M Gibson, G F Hoffmann, A K Hodson, et al.Orphanet Journal of Rare Diseases|November 25, 2021
Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSED Druschke, F Krause, G Müller, et al.Journal of Inherited Metabolic Disease|October 27, 2004
Modulation of glutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenase deficiencyM Wajner, S Kölker, D O Souza, et al.Journal of Inherited Metabolic Disease|October 27, 2004
Neonatal screening for glutaryl-CoA dehydrogenase deficiencyM Lindner, S Kölker, A Schulze, et al.Endocrinology|May 15, 2003
Vitamin D and dexamethasone inversely regulate parathyroid hormone-induced regulator of G protein signaling-2 expression in osteoblast-like cellsM Hömme, C P Schmitt, R Himmele, et al.Molecular Genetics and Metabolism|February 19, 2020
Cardiac phenotype in propionic acidemia - Results of an observational monocentric studyA Kovacevic, S F Garbade, G F Hoffmann, et al.Pageof 18