Clinical and genetic characteristics of three Chinese patients with glycogen storage disease type Ⅸα
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
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4. A new variant in PHKA2 is associated with glycogen storage disease type IXa;Rodríguez-Jiménez;Mol Genet Metab Rep,2017
5. cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis;Davidson;Proc Natl Acad Sci USA,1992
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1. Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature;Orphanet Journal of Rare Diseases;2020-10-14
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