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Article

[Genetic analysis of a child with D bifunctional protein deficiency born to a consanguineous pedigree].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2023

Li Lijia, Long Qingyi, Wen Xiaomei, Li Xue, Tian Yang, Feng Yecheng, Zhang Qiuyue

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a child with D bifunctional protein deficiency (DBPD) born to a consanguineous pedigree. METHODS: A child with DBPD who was admitted to the First Affiliated Hospital of Hainan Medical College on January 6, 2022 due to hypotonia and global developmental delay was selected as the study subject. Clinical data of her pedigree members were collected. Peripheral blood...

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PMID: 37368393
DOI: 10.3760/cma.j.cn511374-20220921-00638

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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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