Author:
Dobrowolski Steven F.,Heintz Caroline,Miller Trent,Ellingson Clinton,Ellingson Clifford,Özer Işıl,Gökçay Gulden,Baykal Tolunay,Thöny Beat,Demirkol Mübeccel,Blau Nenad
Funder
Swiss National Science Foundation
American National Institutes of Health
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference37 articles.
1. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency;Scriver,2001
2. Tetrahydrobiopterin biosynthesis, regeneration, and functions;Thöny;Biochem J,2000
3. Mutations in the BH4-metabolizing genes GTP cyclohydroalse I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase genes;Thöny;Hum Mutat,2006
4. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of Dopa-responsive dystonia and sepiapterin reductase deficiency;Blau;Mol Genet Metab,2001
5. Disorders of tetrahydrobiopterin and related biogenic amines;Blau,2001
Cited by
75 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