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Dihydropyrimidinuria

Known as: Dihydropyrimidinurias 
 
National Institutes of Health

Papers overview

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2005
2005
To date only a single defect of pyrimidine catabolism has been described, namely the deficiency of dihydropyrimidine… Expand
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2005
2005
Johnson JL, Wadman SK (1995) Molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. In: Scriver CR, Beaudet AL… Expand
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2004
2004
Dihydropyrimidinase (DHP, EC 3.5.2.2) is the second enzyme in the degradation pathway of uracil and thymine. It catalyses the… Expand
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1998
1998
To evaluate the prevalence of dihydropyrimidinuria (DHPuria), we analyzed urine samples from 21,200 healthy Japanese infants, and… Expand
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1998
1998
Dihydropyrimidinase (DHP) deficiency (MIM 222748) is characterized by dihydropyrimidinuria and is associated with a variable… Expand
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1997
1997
A case of a child presenting with congenital abnormalities at birth is reported. The early development remained severely retarded… Expand
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1996
1996
Deficiency of dihydropyrimidine dehydrogenase or dihydropyrimidinase, enzymes that catalyze the breakdown of pyrimidine… Expand
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1995
1995
An automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography (HPLC… Expand
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1994
1994
Dihydropyrimidinuria (McKusick 222748) is a recently described disorder of pyrimidine metabolism that presents neurological… Expand
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1993
1993
Dihydropyrimidinase (5,6-dihydropyrimidine amidohydrolase; EC 3.5.2.2), is the second enzyme involved in the breakdown of the… Expand
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