Dihydropyrimidinuria

To date only a single defect of pyrimidine catabolism has been described, namely the deficiency of dihydropyrimidine… Expand

Johnson JL, Wadman SK (1995) Molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. In: Scriver CR, Beaudet AL… Expand

Dihydropyrimidinase (DHP, EC 3.5.2.2) is the second enzyme in the degradation pathway of uracil and thymine. It catalyses the… Expand

To evaluate the prevalence of dihydropyrimidinuria (DHPuria), we analyzed urine samples from 21,200 healthy Japanese infants, and… Expand

Dihydropyrimidinase (DHP) deficiency (MIM 222748) is characterized by dihydropyrimidinuria and is associated with a variable… Expand

A case of a child presenting with congenital abnormalities at birth is reported. The early development remained severely retarded… Expand

Deficiency of dihydropyrimidine dehydrogenase or dihydropyrimidinase, enzymes that catalyze the breakdown of pyrimidine… Expand

An automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography (HPLC… Expand

Dihydropyrimidinuria (McKusick 222748) is a recently described disorder of pyrimidine metabolism that presents neurological… Expand

Dihydropyrimidinase (5,6-dihydropyrimidine amidohydrolase; EC 3.5.2.2), is the second enzyme involved in the breakdown of the… Expand