Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia

Autor: Moreno Macián F, De Mingo Alemany C, León Cariñena S, Ortega López P, Rausell Felix D, Aparisi Navarro M, Martinez Matilla M, Cardona Gay C, Martinez Castellano F, Albiach Mesado V

Publikováno v: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Objectives Hyperinsulinemic hypoglucemia (HH) is characterized by a dysregulation of insulin secretion from pancreatic ß cells. Congenital hyperinsulinism has been associated with specific genes in monogenic forms and also with other diseases with a

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https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=13041