Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: A pilot study-Reference-Cited by-同舟云学术

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Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: A pilot study

Published:2005-12 Issue: Volume:86 Page:91-95
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Fiege Betina,Bonafé Luisa,Ballhausen Diana,Baumgartner Matthias,Thöny Beat,Meili David,Fiori Laura,Giovannini Marcello,Blau Nenad

Publisher

Elsevier BV

Subject

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

Reference13 articles.

1. High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: A study of 1919 patients observed from 1988 to 2002;Bernegger;Mol. Genet. Metab.,2002

2. Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria;Trefz;Pediatrics,2003

3. Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene;Shintaku;Pediatr. Res.,2004

4. Plasma tetrahydrobiopterin and its pharmacokinetics following oral administration;Fiege;Mol. Genet. Metab.,2004

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

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1. Genetic etiology and clinical challenges of phenylketonuria;Human Genomics;2022-07-19

2. Genotype‐phenotype correlations and BH 4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil;Molecular Genetics & Genomic Medicine;2019-03-03

3. The complete European guidelines on phenylketonuria: diagnosis and treatment;Orphanet Journal of Rare Diseases;2017-10-12

4. Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria;Molecular Genetics and Metabolism Reports;2017-09

5. The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients;Scientific Reports;2017-07-28

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