6R-tetrahydrobiopterin treated PKU patients below 4years of age: Physical outcomes, nutrition and genotype-Reference-Cited by-同舟云学术

6R-tetrahydrobiopterin treated PKU patients below 4years of age: Physical outcomes, nutrition and genotype

Published:2015-05 Issue:1 Volume:115 Page:10-16
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Aldámiz-Echevarría Luis,Bueno María A.,Couce María L.,Lage Sergio,Dalmau Jaime,Vitoria Isidro,Llarena Marta,Andrade Fernando,Blasco Javier,Alcalde Carlos,Gil David,García María C.,González-Lamuño Domingo,Ruiz Mónica,Ruiz María A.,Peña-Quintana Luis,González David,Sánchez-Valverde Felix

Funder

NUTRICIA S.L.R. (Madrid, Spain)

Basque Foundation for Healthcare Innovation and Research (BIOEF)

Publisher

Elsevier BV

Subject

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

Reference29 articles.

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

2. Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride;Douglas;Health Qual. Life Outcomes,2013

3. Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU);Burton;Mol. Genet. Metab.,2010

4. Efficacy and safety of BH4 before the age of 4years in patients with mild phenylketonuria;Leuret;J. Inherit. Metab. Dis.,2012

5. Effect of tetrahydrobiopterin on Phe/Tyr ratios and variation in Phe levels in tetrahydrobiopterin responsive PKU patients;Humphrey;Mol. Genet. Metab.,2011

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