GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency
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GDP-mannose pyrophosphorylase B (GMPPB) deficiency is a congenital disorder of glycosylation due to pathogenic variants of the GMPPB gene. GMPPB catalyzes GDP-mannose synthesis, an early step in multiple glycosylation pathways, including N-glycosylation, O-man... ...
