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Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports.

Medicine - 30 Aug 2024

Feng Qi, Zhang Meng Qiao, Ba Chun Xiao, Zhang Ying Qian

Abstract excerpt

OBJECTIVE: Clinical and genetic mutation analysis was performed on 5 infantile glycogen storage disease type II children in Chinese mainland. METHODS: Clinical data of 5 children with infantile-type glycogen storage disease type II due to the acidic α-glucosidase (GAA) gene variants diagnosed and treated at Hebei Provincial Children's Hospital from January 2018 to April 2020 were retrospectively analyzed....

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PMID: 39213226
DOI: 10.1097/MD.0000000000039534
PMCID: PMC11365635

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