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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Detalles Bibliográficos
Autores principales: Andreotti, Giuseppina, Pedone, Emilia, Giordano, Assunta, Cubellis, Maria Vittoria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893156/
https://www.ncbi.nlm.nih.gov/pubmed/24498599
http://dx.doi.org/10.1002/mgg3.3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893156/
https://www.ncbi.nlm.nih.gov/pubmed/24498599
http://dx.doi.org/10.1002/mgg3.3

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