Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis...
Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families
About this item
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Author / Creator
Xiao, Yang , Gu, Qiang , Wu, Hai-Rong , Wang, Song-Tao , Pei, Pei , Zheng, Xue-Fei , Pan, Hong and Ma, Yi-Nan
Publisher
Baltimore: Lippincott Williams & Wilkins
Journal title
Language
English
Formats
Publication information
Publisher
Baltimore: Lippincott Williams & Wilkins
Subjects
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Scope and Contents
Contents
To the Editor: Phenylketonuria (PKU) is an autosomal recessive genetic disease caused by pathogenic variants in the phenylalanine hydroxylase (PAH) gene encoding phenylalanine hydroxylase, a key enzyme in the metabolism of phenylalanine. Informed consent was obtained from the probands or their guardians and their family members. A total of 157 prob...
Alternative Titles
Full title
Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_6cd3b4d63ef7499cb51c90a86b738738
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6cd3b4d63ef7499cb51c90a86b738738
Other Identifiers
ISSN
0366-6999
E-ISSN
2542-5641
DOI
10.1097/CM9.0000000000001469
