Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation-Reference-Cited by-同舟云学术

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Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation

Published:2004-01-27 Issue:2 Volume:23 Page:206-206
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Chien Yin‐Hsiu¹²,Chiang Shu‐Chuan¹,Huang Aichu¹,Chou Shi‐Ping²,Tseng Szu‐San¹,Huang Yuan‐Te²,Hwu Wuh‐Liang¹²

Affiliation:

1. Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

2. Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.9215

Cited by 27 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. Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022;Journal of Zhejiang University (Medical Sciences);2023-12-01

2. Newborn screening and genetic features of patients with hyperphenylalaninemia in a southern Chinese population;Clinica Chimica Acta;2022-10

3. Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province;Brain and Development;2021-02

4. Dietary intake and nutritional status of patients with phenylketonuria in Taiwan;Scientific Reports;2020-09-03

5. Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China;Clinica Chimica Acta;2019-11

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