Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
β Scribed by A. B. P. Van Kuilenburg; P. Vreken; N. G. G. M. Abeling; H. D. Bakker; R. Meinsma; H. Van Lenthe; R. A. De Abreu; J. A. M. Smeitink; H. Kayserili; M. Y. Apak; E. Christensen; I. Holopainen; K. Pulkki; D. Riva; G. Botteon; E. Holme; M. Tulinius; W. J. Kleijer; F. A. Beemer; M. Duran; K. E. Niezen-Koning; G. P. A. Smit; C. Jakobs; L. M. E. Smit; U. Moog; L. J. M. Spaapen; A. H. Van Gennip
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 88 KB
- Volume
- 104
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Primary carnitine deficiency is caused by defective OCTN2 carnitine transporters encoded by the SLC22A5 gene. Lack of carnitine impairs fatty acid oxidation resulting in hypoketotic hypoglycemia, hepatic encephalopathy, skeletal and cardiac myopathy. Recently, asymptomatic mothers with primary carni
Mutations in electron transfer flavoprotein (ETF) and its dehydrogenase (ETFDH) are the molecular basis of multiple acyl-CoA dehydrogenation deficiency (MADD), an autosomal recessively inherited and clinically heterogeneous disease that has been divided into three clinical forms: a neonatal-onset fo
The peroxisome biogenesis disorders (PBD) are characterized by neural, hepatic, and renal deficiencies, severe mental retardation, and are often lethal. These disorders are genetically and phenotypically heterogeneous and are caused by defective peroxisomal protein import and decreased peroxisomal m