Associated Papers
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.
Lunke S et al.
Nature Medicine, 2025
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 2024
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS06_het
Glycogen Storage Disease Type IXb in a 3-y-old Child.
Jain S et al.
Indian Journal of Pediatrics, 2024
Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.
Beyzaei Z et al.
Bmc Pediatrics, 2021
Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.
Beyzaei Z et al.
Scientific Reports, 2021
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