X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation

2013/09/18 by Sun Young Cho, Ching-wan Lam, Ching‐Wan Lam +3 · 13 citations
Medicine · #Glycogen Storage Diseases and Myoclonus #Moyamoya disease diagnosis and treatment #Sympathectomy and Hyperhidrosis Treatments

paper · doi:10.1016/j.cca.2013.08.026

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• Glycogen storage diseases: An update
• Hepatic Glycogen Storage Disease Type IX : Long‐Term Outcomes in the UK From 89 Patients
• PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. [europepmc]
• Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review. [europepmc]
• Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children. [europepmc]
• Dosage Compensation in Females with X-Linked Metabolic Disorders. [europepmc]
• X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis. [europepmc]
• [Splicing abnormalities caused by a novel mutation in the PHKA2 gene in children with glycogen storage disease type IX]. [europepmc]
• A novel PHKA2 variant in a Chinese boy with glycogen storage diseases type IXa. [europepmc]
• Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution. [europepmc]
• Assessment of XCI skewing and demonstration of XCI escape region based on single-cell RNA sequencing: comparison between female Grave's disease and control. [europepmc]
• Understanding Glycogen Storage Disease Type IX: A Systematic Review with Clinical Focus-Why It Is Not Benign and Requires Vigilance. [europepmc]
• Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries. [europepmc]