Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health
Reference10 articles.
1. International database of tetrahyhdrobiopterin deficiencies;Blau;J Inher Metab Dis,1996
2. A peripheral defect in biopterin synthesis: a new mutant;Hreidarsson;Pediatr Res,1982
3. Biopterin synthesis defects: problems in diagnosis;Hoganson;Pediatrics,1984
4. Peripheral tetrahydrobiopterin deficiency with hyperphenylalninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency;Niederwieser;Eur J Pediatr,1987
5. Combined transient and peripheral defects in tetrahydrobiopterin synthesis;Allanson;J Pediatr,1991
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Commentary on the mutation spectrum of and founder effects affecting the PTS gene in East-Asian populations;Journal of Human Genetics;2012-02-16
2. Subtle brain dysfunction in treated 6-pyruvoyl-tetrahydropterin synthase deficiency: relationship to motor tasks and neurophysiological tests;Brain and Development;2004-03
3. Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations;Journal of Inherited Metabolic Disease;2001-12
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