Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

BACKGROUND: Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG. The frequency and etiology of hypoglycemia in PMM2‐CDG are not well studied. METHODS: We conducted a systematic revi...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Moravej, Hossein, Altassan, Ruqaiah, Jaeken, Jaak, Enns, Gregory M., Ellaway, Carolyn, Balasubramaniam, Shanti, De Lonlay, Pascale, Coman, David, Mercimek‐Andrews, Saadet, Witters, Peter, Morava, Eva
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2019
Assuntos:
Research Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7012739/
https://ncbi.nlm.nih.gov/pubmed/32071842
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12085
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