The molecular basis of phenylalanine hydroxylase deficiency in Croatia-Reference-Cited by-同舟云学术

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The molecular basis of phenylalanine hydroxylase deficiency in Croatia

Published:2003-03-19 Issue:4 Volume:21 Page:399-399
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Zschocke Johannes,Preusse Astrid,Sarnavka Vladimir,Fumic Ksenija,Marde?ic Du?ko,Hoffmann Georg F.,Baric Ivo

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 21 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. Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene;International Journal of Molecular Sciences;2024-04-23

2. The analysis of using a panel of the most common variants in the PAH gene for the newborn screening in Ukraine;Molecular Genetics and Metabolism Reports;2022-09

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

4. Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses;Molecular Genetics & Genomic Medicine;2021-01-19

5. Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia;PLOS ONE;2019-01-22

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