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Article

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

Journal of pediatric endocrinology & metabolism : JPEM - 25 Aug 2020

Moreno Macián Francisca, De Mingo Alemany Carmen, León Cariñena Sara, Ortega López Pedro, Rausell Felix Dolores, Aparisi Navarro María, Martinez Matilla Marina, Cardona Gay Cristina, Martinez Castellano Francisco, Albiach Mesado Vicente

Abstract excerpt

Objectives Hyperinsulinemic hypoglucemia (HH) is characterized by a dysregulation of insulin secretion from pancreatic β cells. Congenital hyperinsulinism has been associated with specific genes in monogenic forms and also with other diseases with a yet unknown genetic cause. In 2017, Rubio Cabezas et al. described the association of HH and autosomal recessive polycystic kidney disease (ARPKD) with a promoter...

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Identifiers

PMID: 32841164
DOI: 10.1515/jpem-2020-0168

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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