Hyperinsulinemic Hypoglycemia in Three Generations of a Family with Glucokinase Activating Mutation, c.295T>C (p.Trp99Arg)

Familial Hyperinsulinemic Hypoglycemia (FHH) is a very rare disease with heterogeneous clinical manifestations. There are only a few reports of heterozygous activating mutations of glucokinase (GCK) attributable to FHH, with no reports describing effects in the course in pregnancy with affected moth...

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Detalles Bibliográficos
Autores principales: Gilis-Januszewska, Aleksandra, Bogusławska, Anna, Kowalik, Artur, Rzepka, Ewelina, Soczówka, Karolina, Przybylik-Mazurek, Elwira, Głowa, Bogusław, Hubalewska-Dydejczyk, Alicja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535713/
https://www.ncbi.nlm.nih.gov/pubmed/34680961
http://dx.doi.org/10.3390/genes12101566

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535713/
https://www.ncbi.nlm.nih.gov/pubmed/34680961
http://dx.doi.org/10.3390/genes12101566

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