Partial epilepsy in a girl with a symptom-free sister: First two Finnish patients with dihydropyrimidine dehydrogenase deficiency

Journal of Inherited Metabolic Disease

Volumn 20, Issue 5, 1997, Pages 719-720

  Holopainen, I ^a  

^a TURKU UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE;

ARTICLE; CASE REPORT; CHILD; ENZYME DEFICIENCY; EPILEPTIC STATE; FEMALE; FINLAND; FOCAL EPILEPSY; HUMAN; PRESCHOOL CHILD; SCHOOL CHILD;

CHILD; DIHYDROURACIL DEHYDROGENASE (NADP); EPILEPSIES, PARTIAL; FEMALE; HUMANS; OXIDOREDUCTASES;

EID: 0030882484     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005399131620     Document Type: Article

References (3)

1. van Gennip AH, van Lenthe H, Abeling NGGM, Bakker HD, van Kuilenburg ABP (1995) Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria. J Inher Metab Dis 18: 185-188.
2. Vreken P, van Kuilenburg ABP, Meinsma R, et al (1996) A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency J Inher Metab Dis 19: 645-646.
3. Webster DR, Becroft DOM, Suttie DP (1995) Hereditary orotic aciduria and other disorders of pyrimidine metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1777-1837.