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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Dettagli Bibliografici
Pubblicato in:JIMD Rep
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley & Sons, Inc. 2019
Soggetti:
Research Reports
Accesso online: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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