Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation
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DOI: 10.1136/jmedgenet-2021-108177
Abstract: Purpose To summarise the clinical, molecular and biochemical phenotype of mannosyl-oligosaccharide glucosidase-related congenital disorders of glycosylation (MOGS-CDG), which presents with variable clinical manifestations, and to analyse which clinical biochemical assay consistently supports diagnosis in individuals… read more here.
Keywords: clinical biochemical; genetic characteristics; mogs cdg; analysis ... See more keywords