Associated Papers
Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib.
Xia Y et al.
Jama Network Open, 2025
40009380 (PubMed )
Supplement: jamanetwopen-e2461888-s001.pdf
Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.
Wang Z et al.
The Journal of International Medical Research, 2023
A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia.
Wang F et al.
Frontiers in Pediatrics, 2021
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
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