Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation
- 1 June 1998
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 21 (3) , 272-275
- https://doi.org/10.1023/a:1005328424310
Abstract
No abstract availableThis publication has 7 references indexed in Scilit:
- Inborn errors of pyrimidine degradation: Clinical, biochemical and molecular aspectsJournal of Inherited Metabolic Disease, 1997
- 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
- Identification and tissue-specific expression of a NADH-dependent activity of dihydropyrimidine dehydrogenase in man.1996
- Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradationClinical Chemistry, 1993
- Glutaric aciduria type INeurology, 1987
- Dihydropyrimidine dehydrogenase deficiency — A further caseJournal of Inherited Metabolic Disease, 1985
- Urinary excretion of succinylacetone and δ-aminolevulinic acid in patients with hereditary tyrosinemiaClinica Chimica Acta; International Journal of Clinical Chemistry, 1981