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Dihydropyrimidinuria

Known as: Dihydropyrimidinurias 
National Institutes of Health

Related topics

Related topics

2 relations
Dihydropyrimidinase deficiencyDihydropyrimidine Dehydrogenase Deficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2005
2005
Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism
To date only a single defect of pyrimidine catabolism has been described, namely the deficiency of dihydropyrimidine… 
2005
2005
Dihydropyrimidinuria without clinical symptoms
Johnson JL, Wadman SK (1995) Molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. In: Scriver CR, Beaudet AL… 
2004
2004
Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay
Dihydropyrimidinase (5,6-dihydropyrimidine amidohydrolase; EC 3.5.2.2), is the second enzyme involved in the breakdown of the… 
Highly Cited
1998
Highly Cited
1998
Population and family studies of dihydropyrimidinuria: prevalence, inheritance mode, and risk of fluorouracil toxicity.
To evaluate the prevalence of dihydropyrimidinuria (DHPuria), we analyzed urine samples from 21,200 healthy Japanese infants, and… 
Highly Cited
1998
Highly Cited
1998
Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.
Dihydropyrimidinase (DHP) deficiency (MIM 222748) is characterized by dihydropyrimidinuria and is associated with a variable… 
1997
1997
Dihydropyrimidinase deficiency: Confirmation of the enzyme defect in dihydropyrimidinuria
Dihydropyrimidinase (DHP, EC 3.5.2.2) is the second enzyme in the degradation pathway of uracil and thymine. It catalyses the… 
1997
1997
Dihydropyrimidinase deficiency, a progressive neurological disorder?
A case of a child presenting with congenital abnormalities at birth is reported. The early development remained severely retarded… 
1996
1996
Possible prediction of adverse reactions to pyrimidine chemotherapy from urinary pyrimidine levels and a case of asymptomatic adult dihydropyrimidinuria.
Deficiency of dihydropyrimidine dehydrogenase or dihydropyrimidinase, enzymes that catalyze the breakdown of pyrimidine… 
1995
1995
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
1994
1994
Dihydropyrimidinuria: the first case in Japan.
Dihydropyrimidinuria (McKusick 222748) is a recently described disorder of pyrimidine metabolism that presents neurological… 
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