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Article

[Screening for carriers of pathogenic genes for methylmalonic acidemia and Wilson's disease in neonates in Qingdao].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jul 2020

Qiao L Y, Ge J, Li W J, Wang J, Zhou G C, Li T

Abstract excerpt

Objective: To investigate the carrier frequency of pathogenic genes for methylmalonic acidemia and Wilson's disease in neonates in Qingdao. Methods: In this cross-sectional study, using computer random sampling, 5 020 neonates from the neonatal screening center in Qingdao area from June 2016 to December 2018 were selected, and 5 012 of them were included in the carrier screening study.DNA was extracted from dried...

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Identifiers

PMID: 32605346
DOI: 10.3760/cma.j.cn112140-20191208-00786

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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