Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families-Reference-Cited by-同舟云学术

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Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families

Published:2021-05-19 Issue:13 Volume:134 Page:1626-1628
ISSN:0366-6999
Container-title:Chinese Medical Journal
language:en
Short-container-title:

Author:

Xiao Yang,Gu Qiang,Wu Hai-Rong,Wang Song-Tao,Pei Pei,Zheng Xue-Fei,Pan Hong,Ma Yi-Nan

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine,General Medicine

Reference12 articles.

1. Phenylketonuria;Blau;Lancet,2010

2. Psychiatric and cognitive aspects of phenylketonuria: the limitations of diet and promise of new treatments;Ashe;Front Psychiatry,2019

3. Analysis of neonatal screening results of 176340 neonates in Haidian District (in Chinese);Gao;Chin J Reprod Heal,2019

4. Molecular characterization of phenylketonuria in a Chinese mainland population using next-generation sequencing;Li;Sci Rep,2015

5. The molecular basis of phenylketonuria in Koreans;Lee;J Hum Genet,2004

Cited by 5 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. Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing;Orphanet Journal of Rare Diseases;2023-05-26

2. The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China;Human Genomics;2023-04-25

3. Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants;Genetic Testing and Molecular Biomarkers;2022-12-01

4. Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China;Molecular Biology Reports;2022-09-14

5. Spectrum of PAH gene mutations and genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey;Journal of Pediatric Endocrinology and Metabolism;2022-03-30

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