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6-pyruvoyltetrahydropterin 2'-reductase activity
Known as:
6-pyruvoyl-tetrahydropterin 2'-reductase activity
, 6-lactoyl-5,6,7,8-tetrahydropterin:NADP+ 2'-oxidoreductase activity
, 6-pyruvoyltetrahydropterin reductase activity
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Catalysis of the reaction: NADP+ + 6-lactoyl-5,6,7,8-tetrahydropterin = NADPH + H+ + 6-pyruvoyltetrahydropterin. [EC:1.1.1.220, MetaCyc:1.1.1.220-RXN…
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National Institutes of Health
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2010
2010
Prenatal diagnosis to 6-pyruvoyl tetrahydropterin synthase deficiency
Qiaoli Yu
2010
Corpus ID: 88219181
Objective To diagnose the atypical phenyl ketonuria(PKU) by DNA mutation analysis for the second fetuses from 4 families with…
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2005
2005
Defect in pyruvoyl-tetrahydropterin synthase Author :
Professor Jean-Louis Dhondt
2005
Corpus ID: 11929314
Keywords Disease name and synonyms Excluded diseases Diagnostic criteria/definition Differential diagnosis Prevalence Clinical…
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Review
2005
Review
2005
Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase de W ciency
Ni‐Chung Lee
,
Ling-Yee Cheng
,
Tze-tze Liu
,
K. Hsiao
,
P. Chiu
,
D. Niu
2005
Corpus ID: 36180744
Objectives: 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deWciency is the most important type of BH4 deWciency related to…
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2001
2001
Prenatal diagnosis of 6-pyruvoyl tetrahydropterin synthase deficiency:application in a family
L. Zizi
2001
Corpus ID: 87651299
Objective Defects in 6 pyruvoyl tetrahydropterin synthase(PTPS)may cause deficiency of tetrahydrobiopterin (BH 4), the essential…
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1996
1996
Tetrahydrobiopterin induced neonatal tyrosinaemia
N. Blau
,
M. Beck
,
D. Matern
European Journal of Pediatrics
1996
Corpus ID: 26845552
Sir: Transient neonatal tyrosinaemia is thought to be caused by late maturation of the hepatic enzymes 4-hydroxyphenylpyruvate…
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1988
1988
Vegetarian diet and vitamin B12 deficiency
G. Close
European Journal of Pediatrics
1988
Corpus ID: 13533991
1. Hoganson G, Berlow S, Kaufman S, Milstien S, Schuett V, Matalon R, Naylor E, Seifert W (1984) Biopterin synthesis defects…
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