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Glutaric aciduria type II: report on a previously undescribed metabolic disorder.
Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.
- J. Johnson, W. Waud, K. Rajagopalan, M. Durán, F. Beemer, S. K. Wadman
- BiologyProceedings of the National Academy of Sciences…
- 1 June 1980
A patient suffering from a combined deficiency of sulfite oxidase and xanthine dehydrogenase shows severe neurological abnormalities, dislocated ocular lenses, and mental retardation, and the metabolic defect responsible for loss of both enzyme activities appears to be at the level of the molybdenum cofactor common to the two enzymes.
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
- M. Durán, J. Kamerling, H. Bakker, A. H. Gennip, S. K. Wadman
- Medicine, BiologyJournal of Inherited Metabolic Disease
- 1 December 1980
A 5-year-old boy, excreting large amounts of 2-hydroxyglutaric acid in the urine, found to have thel-configuration, as analysed by capillary gas chromatography of theO-acetylated di-(-)-2-butyl ester derivative.
Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism.
Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency.
- J. W. Stoop, B. Zegers, R. Ballieux
- Medicine, BiologyThe New England journal of medicine
- 24 March 1977
Intoxication of the T lymphocytes after birth by metabolic products may explain the progressive cellular immunodeficiency in a 15-month-old girl with spastic tetraparesis.
Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles.
- J. Van Biervliet, L. Bruinvis, D. Ketting, P. K. de Bree, C. van der Heiden, S. K. Wadman
- Medicine, BiologyPediatric research
- 1 October 1977
A patient suffering froma mitochondrial myopathy leading to severe insufficiency of the voluntary muscles is described, and a defective respiratory chain in the mitochondria of the striated muscles is proposed as the underlying mechanism.
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis
The clinical heterogeneity of adenylosuccinase deficiency justifies systematic screening for the enzyme defect in unexplained neurological disease.
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs
Two Vietnamese siblings with an isolated deficiency of 3-methylcrotonyl coenzyme A carboxylase in leucocytes and culture fibroblasts and in vivo or in vitro biochemical response to biotin are described.
Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies.
Cis-4-decenoic acid in plasma: a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiency.
- M. Durán, L. Bruinvis, D. Ketting, J. D. de Klerk, S. K. Wadman
- MedicineClinical chemistry
- 1 March 1988
The profile of organic acids in plasma of patients with a deficiency of medium-chain acyl-CoA dehydrogenase (EC 184.108.40.206) was determined by gas-liquid chromatography of trimethylsilylated derivatives…