Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
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DOI: 10.1038/s41436-018-0301-4
Abstract: PurposePMM2-CDG is the most common congenital disorder of glycosylation (CDG), which presents with either a neurologic or multisystem phenotype. Little is known about the longitudinal evolution.MethodsWe performed data analysis on PMM2-CDG patients’ clinical features according… read more here.
Keywords: cdg; follow pmm2; term follow; long term ... See more keywords