Author:
Arrabal Luisa,Teresa Libertad,Sánchez-Alcudia Rocío,Castro Margarita,Medrano Celia,Gutiérrez-Solana Luis,Roldán Susana,Ormazábal Aida,Pérez-Cerdá Celia,Merinero Begoña,Pérez Belén,Artuch Rafael,Ugarte Magdalena,Desviat Lourdes R.
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Reference28 articles.
1. Thony B, Auerbach G, Blau N (2000) Tetrahydrobiopterin biosynthesis, regeneration and functions. Biochem J 347(Pt 1):1–16
2. Blau N, Thony B, Cotton GH, Hyland K (2001) Disorders of tetrahydrobioterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B (eds) The metabolic and molecular basis of inherited disease, 8th edn. McGraw-Hill, New York, pp 1725–1776
3. Bonafe L, Thony B, Penzien JM, Czarnecki B, Blau N (2001) Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet 69:269–277
4. Bonafe L, Thony B, Leimbacher W, Kierat L, Blau N (2001) Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. Clin Chem 47:477–485
5. Thony B, Blau N (2006) Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat 27:870–878
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