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Article

[Chylomicron retention disease caused by SAR1B gene variations in 2 cases and literatures review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jun 2024

Zhang Y Q, Wu L T, Cheng Y, Lu Y, Li Y C, Feng J Y, Xing Q H, Li W J, Wang J S

Abstract excerpt

Objective: To summarize the genotype and clinical characteristics of chylomicron retention disease (CMRD) caused by secretion associated Ras related GTPase 1B (SAR1B) gene variations. Methods: Clinical data and genetic testing results of 2 children with CMRD treated at Children's Hospital of Fudan University and Jiangxi Provincial Children's Hospital from May 2022 to July 2023 were summarized. To provide an...

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Identifiers

PMID: 38763880
DOI: 10.3760/cma.j.cn112140-20240301-00138

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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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