Associated Papers
Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.
Sun C et al.
Orphanet Journal of Rare Diseases, 2025
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 2024
A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.
Shao Y et al.
Bmc Pediatrics, 2022
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
PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature.
Li C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
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