Partial epilepsy in a girl with a symptom-free sister: First two Finnish patients with dihydropyrimidine dehydrogenase deficiency
- 1 September 1997
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 20 (5), 719-720
- https://doi.org/10.1023/a:1005399131620
Abstract
No abstract availableThis publication has 2 references indexed in Scilit:
- A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiencyJournal of Inherited Metabolic Disease, 1996
- Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluriaJournal of Inherited Metabolic Disease, 1995