A new variant in PHKA2 is associated with glycogen storage disease type IXa
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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