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Dihydropyrimidinuria

Known as: Dihydropyrimidinurias 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2005
2005
To date only a single defect of pyrimidine catabolism has been described, namely the deficiency of dihydropyrimidine… 
2005
2005
Johnson JL, Wadman SK (1995) Molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. In: Scriver CR, Beaudet AL… 
2004
2004
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
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 (DHP) deficiency (MIM 222748) is characterized by dihydropyrimidinuria and is associated with a variable… 
1997
1997
Dihydropyrimidinase (DHP, EC 3.5.2.2) is the second enzyme in the degradation pathway of uracil and thymine. It catalyses the… 
1997
1997
A case of a child presenting with congenital abnormalities at birth is reported. The early development remained severely retarded… 
1996
1996
Deficiency of dihydropyrimidine dehydrogenase or dihydropyrimidinase, enzymes that catalyze the breakdown of pyrimidine… 
1994
1994
Dihydropyrimidinuria (McKusick 222748) is a recently described disorder of pyrimidine metabolism that presents neurological…