Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: Evolution of seven patients on long-term treatment with tetrahydrobiopterin-Reference-Cited by-同舟云学术

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Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: Evolution of seven patients on long-term treatment with tetrahydrobiopterin

Published:2005-12 Issue: Volume:86 Page:61-66
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Bélanger-Quintana Amaya,García María José,Castro Margarita,Desviat Lourdes R.,Pérez Belén,Mejía Blanca,Ugarte Magdalena,Martínez-Pardo Mercedes

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference23 articles.

1. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency;Scriver,2001

2. Disorders of tetrahydrobiopterin and related biogenic amines;Blau,2001

3. The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency;Güttler;Eur. J. Pediatr.,1996

4. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency;Kure;J. Pediatr.,1999

5. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria;Muntau;N. Engl. J. Med.,2002

Cited by 48 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. Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect;Molecular Genetics and Metabolism Reports;2024-03

2. Protein Substitute Requirements of Patients with Phenylketonuria on BH4 Treatment: A Systematic Review and Meta-Analysis;Nutrients;2021-03-23

3. Disorders of phenylalanine and tyrosine metabolism;Translational Science of Rare Diseases;2020-08-03

4. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria;Molecular Genetics and Metabolism;2019-05

5. Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose;Journal of Pediatric Endocrinology and Metabolism;2017-01-01

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