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
The natural history of glycogen storage disease type Ib in England: A multisite survey.
Halligan R et al.
Jimd Reports, 2021
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
33083013 (PubMed )
Supplement: 41525_2020_150_MOESM1_ESM.pdf
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F et al.
Molecular Genetics & Genomic Medicine, 2019
Bone marrow transplantation in glycogen storage disease type 1b.
Pierre G et al.
The Journal of Pediatrics, 2008
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