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Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

Journal of Medical Genetics Oct 04, 2017

Schiff M, et al. - This research sought a better characterization of the natural history of phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG). It was determined that PMM2-CDG clinical phenotype was heterogeneous with regard to the clinical course. It did not display any clear division between the neurological and visceral presentations.
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