Variants of the phenylalanine hydroxylase gene in neonates with phenylketonuria in Hainan, China
Author:
Affiliation:
1. Hainan Women and Children’s Medical Center, Hainan Newborn Screening Center, Haikou, China
Funder
Research Project of Hainan Health and Family Planning Commission
Major Scientific and Technological Projects of Hainan Province
Publisher
Informa UK Limited
Subject
Clinical Biochemistry,General Medicine
Link
https://www.tandfonline.com/doi/pdf/10.1080/00365513.2020.1827287
Reference23 articles.
1. Gu XF. Clinical genetic metaboic dieseases. People’s Medical Publishing House; 2015. p. 36–136. (in chinese)
2. National Heath Commission of the People’s Republic of China. Regulations on Newborn Screening. 2009. (in chinese)
3. Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices
4. Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus
5. Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results
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3. Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province;Frontiers in Genetics;2023-02-09
4. Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City;Discovery Medicine;2023
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