Associated Papers
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
Liver histology in children with glycogen storage disorders type VI and IX.
Degrassi I et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2021
Neurological Characteristics of Pediatric Glycogen Storage Disease.
Muzetti JH et al.
Frontiers in Endocrinology, 2021
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
Bali DS et al.
Molecular Genetics and Metabolism, 2014
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