Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2017_8
Reference42 articles.
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2. Albash B, Imtiaz F, Al-Zaidan H et al (2014) Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature. Eur J Pediatr 173:647–653
3. Bali DS, Goldstein JL, Fredrickson K et al (2014) Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. Mol Genet Metab 111:309–313
4. Ban K, Sugiyama K, Goto K, Mizutani F, Togari H (2003) Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency. Tohoku J Exp Med 200:47–53
5. Beauchamp NJ, Dalton A, Ramaswami U et al (2007a) Glycogen storage disease type IX: high variability in clinical phenotype. Mol Genet Metab 92:88–99
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