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Article

Recurrent pancreatitis and sepsis in glycogen storage disease type Ia caused by complex heterozygous mutations in 2 sisters: Case report.

Medicine - 30 Dec 2022

Liu Qin, Yu Fang, Lu Huilin, Luo Jian, Sun Ting, Yu Lu, Gan Shenglian

Abstract excerpt

RATIONALE: Glycogen storage disease (GSD) is a glycogen metabolism disorder caused by congenital enzyme defects, with type I being the most common. Owing to the rarity of glycogen storage disease type Ia (GSD Ia) and the involvement of diverse systems, patients are prone to delayed diagnosis and inappropriate treatment. Additional studies are required to standardize the diagnosis and treatment of GSD Ia. PATIENT...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36595986
DOI: 10.1097/MD.0000000000032510
PMCID: PMC9803525

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