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Article

Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a.

Gene - 1 Nov 2012

Shieh Jeng-Jer, Lu Yung-Hsiu, Huang Shi-Wei, Huang Yu-Hsiu, Sun Chih-Hao, Chiou Hong-Jen, Liu Chinsu, Lo Ming-Yu, Lin Ching-Yuang, Niu Dau-Ming

Abstract excerpt

The manifestations of glycogen storage disease type 1a (GSD 1a) are usually so prominent in childhood that it is readily diagnosed by pediatricians. However, a mild form of the disease may only become apparent during adolescence or adulthood. We observed a brother and sister with subtle manifestations of the disease, which was discovered after the brother's son was diagnosed with typical GSD 1a. The adult...

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PMID: 22909800
DOI: 10.1016/j.gene.2012.07.057

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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