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Article

Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.

Journal of pediatric endocrinology & metabolism : JPEM - 7 Sept 2020

Lu Shi-Qi, Feng Jia-Yan, Liu Jie, Xie Xin-Bao, Lu Yi, Abuduxikuer Kuerbanjiang

Abstract excerpt

Objectives The aim of our study is to systematically describe the genotypic and phenotypic spectrum of Glycogen storage disease type VI (GSD VI), especially in Chinses population. Methods We retrospectively analyzed ten Chinese children diagnosed as having GSD VI confirmed by next generation sequencing in Children's Hospital of Fudan University and Jinshan Hospital of Fudan University. We described the genotypic...

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Identifiers

PMID: 32892177
DOI: 10.1515/jpem-2020-0173

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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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