Studies
Autosomal recessive PGM3 mutations cause a new Congenital Disorder of Glycosylation
Autosomal recessive PGM3 mutations cause a new Congenital Disorder of Glycosylation
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Overview
Selected Publications (2)
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
Yu Zhang, Xiaomin Yu, M. Ichikawa, et al.. (2014). The Journal of allergy and clinical immunology. Cited 199 times.
https://doi.org/10.1016/j.jaci.2014.02.013
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment
B. Hay, Julie E. Martin, B. Karp, et al.. (2004). American Journal of Medical Genetics Part A. Cited 14 times.
https://doi.org/10.1002/ajmg.a.20595
