Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria-Reference-Cited by-同舟云学术

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Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria

Published:2012-03-03 Issue:6 Volume:35 Page:975-981
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Leuret Oriane,Barth Magalie,Kuster Alice,Eyer Didier,de Parscau Loïc,Odent Sylvie,Gilbert-Dussardier Brigitte,Feillet François,Labarthe François

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-012-9464-3

Reference26 articles.

1. Adamczyk P, Morawiec-Knysak A, Pludowski P, Banaszak B, Karpe J, Pluskiewicz W (2011) Bone metabolism and the muscle-bone relationship in children, adolescents and young adults with phenylketonuria. J Bone Miner Metab 29:236–244

2. Anastasoaie V, Kurzius L, Forbes P, Waisbren S (2008) Stability of blood phenylalanine levels and IQ in children with phenylketonuria. Mol Genet Metab 95:17–20

3. Antshel KM (2010) ADHD, learning, and academic performance in phenylketonuria. Mol Genet Metab 99(Suppl 1):S52–S58

4. Belanger-Quintana A, Garcia MJ, Castro M et al (2005) Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin. Mol Genet Metab 86(Suppl 1):S61–S66

5. Blau N, Erlandsen H (2004) The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab 82:101–111

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3. Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria;Molecular Genetics and Metabolism;2021-05

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

5. Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis;Molecular Genetics and Metabolism;2021-02

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