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Journal of Inherited Metabolic Disease|August 1, 1997
Abnormal glutathione conjugation in patients with tyrosinaemia type IT M Mulders, D J Bergman, B T Poll-The, et al.
Journal of Inherited Metabolic Disease|November 5, 1997
Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?B Assmann, G F Hoffmann, L Wagner, et al.
The Journal of Cell Biology|June 24, 2020
The function of GORASPs in Golgi apparatus organization in vivoRianne Grond, Tineke Veenendaal, Juan M Duran, et al.
Nucleosides, Nucleotides & Nucleic Acids|July 5, 2008
Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuriaA B P van Kuilenburg, J Meijer, D Dobritzsch, et al.
American Journal of Human Genetics|May 11, 2006
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathyS Ferdinandusse, P Kostopoulos, S Denis, et al.
American Journal of Human Genetics|September 1, 1993
A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD)B S Andresen, P Bross, T G Jensen, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenaseP G Barth, G F Hoffmann, J Jaeken, et al.
Prostaglandins, Leukotrienes, and Essential Fatty Acids|March 26, 2004
Fatty acids and homocysteine levels in patients with recurrent depression: an explorative pilot studyJ Assies, A Lok, C L Bockting, et al.
The Journal of Heart Valve Disease|March 4, 2000
Significant increase of aortic root volume and commissural area occurs prior to aortic valve openingD C Pang, S J Choo, H H Luo, et al.
Clinical Genetics|September 30, 2011
Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosisR Huijgen, A D M Stork, J C Defesche, et al.
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