Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation

Phosphomannomutase 2 (PMM2) deficiency represents the most frequent type of congenital disorders of glycosylation. For this disease there is no cure at present. The complete loss of phosphomannomutase activity is probably not compatible with life and people affected carry at least one allele with re...

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Bibliographic Details
Main Authors: Andreotti, Giuseppina, Pedone, Emilia, Giordano, Assunta, Cubellis, Maria Vittoria
Format: Online
Language:English
Published: Blackwell Publishing Ltd 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893156/