Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice

Patients with congenital disorder of glycosylation (CDG), type Ib (MPI-CDG or CDG-Ib) have mutations in phosphomannose isomerase (MPI) that impair glycosylation and lead to stunted growth, liver dysfunction, coagulopathy, hypoglycemia, and intestinal abnormalities. Mannose supplements correct hypogl...

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Détails bibliographiques
Auteurs principaux: Sharma, Vandana, Nayak, Jonamani, DeRossi, Charles, Charbono, Adriana, Ichikawa, Mie, Ng, Bobby G., Grajales-Esquivel, Erika, Srivastava, Anand, Wang, Ling, He, Ping, Scott, David A., Russell, Joseph, Contreras, Emily, Guess, Cherise M., Krajewski, Stan, Del Rio-Tsonis, Katia, Freeze, Hudson H.
Format: Artigo
Langue:Inglês
Publié: Federation of American Societies for Experimental Biology 2014
Sujets:
Research Communications
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3963023/
https://ncbi.nlm.nih.gov/pubmed/24421398
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1096/fj.13-245514
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