The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III
Abstract Background Glycogen storage disease type III (GSD III) is a rare autosomal recessive glycogenolysis disorder due to AGL gene variants, characterized by hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated hepatic transaminases, growth retardation, progressive myopathy, and cardiomyo...
Main Authors: | Jing Wang, Yuping Yu, Chunquan Cai, Xiufang Zhi, Ying Zhang, Yu Zhao, Jianbo Shu |
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Format: | Article |
Language: | English |
Published: |
BMC
2022-05-01
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Series: | BMC Pediatrics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12887-022-03252-y |
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