Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS-Reference-Cited by-同舟云学术

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Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS

Published:2020-01-17 Issue:4 Volume:5 Page:1805-1812
ISSN:2470-1343
Container-title:ACS Omega
language:en
Short-container-title:ACS Omega

Author:

Yan Yousheng¹²³,Jin Xiaohua¹,Wang Xing²,Zhang Chuan²,Zhang Qinhua²,Zheng Lei²,Feng Xuan²,Hao Shengju²,Gao Huafang¹^ORCID,Ma Xu¹

Affiliation:

1. National Research Institute for Family Planning, Beijing 100081, China

2. Gansu Province Medical Genetics Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou 730050, China

3. Peking University International Hospital, Beijing 102206, China

Funder

Ministry of Science and Technology of the People's Republic of China

Natural Science Foundation of Gansu Province

Publisher

American Chemical Society (ACS)

Subject

General Chemical Engineering,General Chemistry

Link

http://pubs.acs.org/doi/pdf/10.1021/acsomega.9b02955

Reference20 articles.

1. Phenylalanine hydroxylase deficiency

2. Newborn Screening for Inborn Errors of Metabolism in Mainland China: 30 Years of Experience

3. Phenylketonuria mutations in Europe

4. Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing

Cited by 3 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. Building Minimized Epigenetic Clock by iPlex MassARRAY Platform;Genes;2024-03-28

2. A capillary electrophoresis-based variant hotspot genotyping method for rapid and reliable analysis of the phenylalanine hydroxylase gene in the Chinese Han population;Clinica Chimica Acta;2021-12

3. L-phenylalanine-imprinted polydopamine-coated CdS/CdSe n-n type II heterojunction as an ultrasensitive photoelectrochemical biosensor for the PKU monitoring;Biosensors and Bioelectronics;2020-10

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