Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene

SUMMARY: HNF4A gene mutations have been reported in cases of transient and persistent hyperinsulinaemic hypoglycaemia of infancy (HHI), particularly in families with adulthood diabetes. The case of a patient with HHI, liver impairment and renal tubulopathy due to a mutation in HNF4A is reported. LEA...

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Detalles Bibliográficos
Autores principales: Clemente, María, Vargas, Alejandro, Ariceta, Gema, Martínez, Rosa, Campos, Ariadna, Yeste, Diego
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2017
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5404475/
https://www.ncbi.nlm.nih.gov/pubmed/28458902
http://dx.doi.org/10.1530/EDM-16-0133

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