Phenylalanine hydroxylase deficiency in south Italy: Genotype–phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness-Reference-Cited by-同舟云学术

Phenylalanine hydroxylase deficiency in south Italy: Genotype–phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness

Published:2015-10 Issue: Volume:450 Page:51-55
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Trunzo Roberta^ORCID,Santacroce Rosa,D'Andrea Giovanna,Longo Vittoria,De Girolamo Giuseppe,Dimatteo Claudia,Leccese Angelica,Bafunno Valeria,Lillo Vincenza,Papadia Francesco,Margaglione Maurizio

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference29 articles.

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4. Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population;Dobrowolski;Mol. Genet. Metab.,2011

5. Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria;Trefz;J. Inherit. Metab. Dis.,2009

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1. Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy;Molecular Genetics and Metabolism;2023-11

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3. Allelic phenotype prediction of phenylketonuria based on the machine learning method;Human Genomics;2023-03-31

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5. Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review;Metabolic Brain Disease;2021-02-24