Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation

A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency

P. Vreken, André B. P. Kuilenburg, Rutger Meinsma et al. · Journal of Inherited Metabolic Disease · 1996 · 101 citations

Life Sciences, Genetics, Molecular Genetics +16

Glutaric aciduria type I

Naomi Amir, Orly Elpeleg, Ruth S. Shalev et al. · Neurology · 1987 · 77 citations

Medicine, Biochemistry, Pediatrics +8

Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation

A. H. van Gennip, Sandra Busch, L. Elzinga et al. · Clinical Chemistry · 1993 · 59 citations

Life Sciences, Biochemistry, Drug Metabolism +15

Urinary excretion of succinylacetone and δ-aminolevulinic acid in patients with hereditary tyrosinemia

E. Christensen, Bendt Brock Jacobsen, N. Gregersen et al. · Clinica Chimica Acta · 1981 · 43 citations

Life Sciences, Biochemistry, Excretion +6

Dihydropyrimidine dehydrogenase deficiency — A further case

Bridget Wilcken, Jeremy Hammond, Rolf M.F. Berger et al. · Journal of Inherited Metabolic Disease · 1985 · 24 citations

Life Sciences, Genetics, Molecular Genetics +10