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Article

[Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Feb 2017

Yang R L, Tong F, Hong F, Qian G L, Wu D W, Zhao Z Y

Abstract excerpt

Objective: To investigate the prevalence of galactosemia(GAL), and the characteristics of genotype and phenotype of newborns who were confirmed with GAL in newborn screening in Zhejiang province. Method: The number of all live births, newborn screened infants and all clinical data of confirmed newborns with GAL from October 2013 to March 2015 were retrospectively analyzed by reviewing the data of Zhejiang...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28173647
DOI: 10.3760/cma.j.issn.0578-1310.2017.02.010

Genes

GAL
GALE
GALT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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