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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Bibliographische Detailangaben
Hauptverfasser: Andreotti, Giuseppina, Pedone, Emilia, Giordano, Assunta, Cubellis, Maria Vittoria
Format: Artigo
Sprache:Inglês
Veröffentlicht: Blackwell Publishing Ltd 2013
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3893156/
https://ncbi.nlm.nih.gov/pubmed/24498599
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.3
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