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Biochimica Et Biophysica Acta|October 19, 2002
A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiencyJürgen G Okun, Stefan Kölker, Andreas Schulze, et al.Frontiers in Oncology|June 9, 2020
Mitochondrial Dysfunction Inhibits Hypoxia-Induced HIF-1α Stabilization and Expression of Its Downstream TargetsMarike W van Gisbergen, Kelly Offermans, An M Voets, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|May 26, 2007
Atypical case of Aicardi-Goutières syndrome with late-onset myoclonic statusAndrea Berger, Christiane Schroeter, Adelheid Wiemer-Kruel, et al.Child Psychiatry and Human Development|May 20, 2014
Health-related quality of life in adolescents with inflammatory bowel disease depends on disease activity and psychiatric comorbidityG Engelmann, D Erhard, M Petersen, et al.Gene|January 21, 2014
Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSFDorothea Haas, Hongying Gan-Schreier, Claus-Dieter Langhans, et al.Journal of Inherited Metabolic Disease|May 15, 2007
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)D Haas, S F Garbade, C Vohwinkel, et al.Neuropediatrics|August 30, 2000
Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?A C Muntau, W Röschinger, A Merkenschlager, et al.Bone Marrow Transplantation|August 11, 2001
Successful HLA-identical bone marrow transplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioningC F Classen, A S Schulz, M Sigl-Kraetzig, et al.Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde|November 1, 1991
[Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenase deficiency (glutaric aciduria type I)]F K Trefz, G F Hoffmann, E Mayatepek, et al.Journal of Inherited Metabolic Disease|September 13, 2014
Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type IRoland Posset, Silvana Opp, Eduard A Struys, et al.Pageof 108