Hyperinsulinemic Hypoglycemia Due to PMM2 Mutation in Two Siblings with Autosomal Recessive Polycystic Kidney Disease

Background: Hyperinsulinemic hypoglycemia (HH) is an important cause of persistent hypoglycemia in newborns and infants. Recently, PMM2 (phosphomannomutase 2) mutation has been associated with HH, especially in conjunction with polycystic kidney disease (PKD). PMM2 deficiency is one of the most comm...

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Detalles Bibliográficos
Autores principales: Acharya, Ratna, Upadhyay, Kiran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9680396/
https://www.ncbi.nlm.nih.gov/pubmed/36412659
http://dx.doi.org/10.3390/pediatric14040052

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9680396/
https://www.ncbi.nlm.nih.gov/pubmed/36412659
http://dx.doi.org/10.3390/pediatric14040052

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