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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Publicado en:JIMD Rep
Autores principales: 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
Lenguaje:Inglês
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Reports
Acceso en línea: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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