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Dihydropyrimidinuria
Known as:
Dihydropyrimidinurias
National Institutes of Health
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Related topics
Related topics
2 relations
Dihydropyrimidinase deficiency
Dihydropyrimidine 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
M. Durán
,
P. Rovers
,
+4 authors
R. Berger
Journal of Inherited Metabolic Disease
2005
Corpus ID: 27782823
To date only a single defect of pyrimidine catabolism has been described, namely the deficiency of dihydropyrimidine…
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2005
2005
Dihydropyrimidinuria without clinical symptoms
S. Sumi
,
K. Kidouchi
,
K. Hayashi
,
S. Ohba
,
Y. Wada
Journal of Inherited Metabolic Disease
2005
Corpus ID: 26973594
Johnson JL, Wadman SK (1995) Molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. In: Scriver CR, Beaudet AL…
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2004
2004
Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay
M. Henderson
,
K. Ward
,
H. Simmonds
,
J. Duley
,
P. M. Davies
Journal of Inherited Metabolic Disease
2004
Corpus ID: 23889608
Dihydropyrimidinase (5,6-dihydropyrimidine amidohydrolase; EC 3.5.2.2), is the second enzyme involved in the breakdown of the…
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Highly Cited
1998
Highly Cited
1998
Population and family studies of dihydropyrimidinuria: prevalence, inheritance mode, and risk of fluorouracil toxicity.
S. Sumi
,
M. Imaeda
,
+5 authors
Y. Wada
American journal of medical genetics
1998
Corpus ID: 23761216
To evaluate the prevalence of dihydropyrimidinuria (DHPuria), we analyzed urine samples from 21,200 healthy Japanese infants, and…
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Highly Cited
1998
Highly Cited
1998
Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.
N. Hamajima
,
M. Kouwaki
,
+15 authors
Y. Wada
American journal of human genetics
1998
Corpus ID: 23404705
Dihydropyrimidinase (DHP) deficiency (MIM 222748) is characterized by dihydropyrimidinuria and is associated with a variable…
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1997
1997
Dihydropyrimidinase deficiency: Confirmation of the enzyme defect in dihydropyrimidinuria
A. V. van Gennip
,
R. D. De Abreu
,
+4 authors
A. V. van Kuilenburg
Journal of Inherited Metabolic Disease
1997
Corpus ID: 6193518
Dihydropyrimidinase (DHP, EC 3.5.2.2) is the second enzyme in the degradation pathway of uracil and thymine. It catalyses the…
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1997
1997
Dihydropyrimidinase deficiency, a progressive neurological disorder?
C. Putman
,
J. Rotteveel
,
R. Wevers
,
A. V. van Gennip
,
J. Bakkeren
,
R. D. De Abreu
Neuropediatrics
1997
Corpus ID: 23080166
A case of a child presenting with congenital abnormalities at birth is reported. The early development remained severely retarded…
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1996
1996
Possible prediction of adverse reactions to pyrimidine chemotherapy from urinary pyrimidine levels and a case of asymptomatic adult dihydropyrimidinuria.
K. Hayashi
,
K. Kidouchi
,
+5 authors
Y. Wada
Clinical cancer research : an official journal of…
1996
Corpus ID: 25341283
Deficiency of dihydropyrimidine dehydrogenase or dihydropyrimidinase, enzymes that catalyze the breakdown of pyrimidine…
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1995
1995
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
S. Sumi
,
K. Kidouchi
,
S. Ohba
,
Y. Wada
Journal of chromatography. B, Biomedical…
1995
Corpus ID: 31538245
1994
1994
Dihydropyrimidinuria: the first case in Japan.
S. Ohba
,
K. Kidouchi
,
+7 authors
M. Kobayashi
Advances in experimental medicine and biology
1994
Corpus ID: 38104531
Dihydropyrimidinuria (McKusick 222748) is a recently described disorder of pyrimidine metabolism that presents neurological…
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