Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa.
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DOI: 10.1016/j.gene.2017.06.026
Abstract: Glycogen storage disease (GSD) type IXa is caused by PHKA2 mutation, which accounts for about 75% of all the GSD type IX cases. Here we first summarized the clinical data and analyzed the PHKA2 gene… read more here.
Keywords: type; type ixa; glycogen storage; storage disease ... See more keywords
A new variant in PHKA2 is associated with glycogen storage disease type IXa
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2017.01.003
Abstract: Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. PYGL, PHKA1, PHKA2, PHKB and PHKG2 genes were… read more here.
Keywords: type ixa; glycogen storage; phka2; type ... See more keywords