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Congenital Hyperinsulinism Disorders: Genetic and Clinical Characteristics

Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. Delays in diagnosis and initiation of appropriate treatment contribute to a high risk of neurocognitive impairment. HI represents a heterogeneous group of disorders characterized by dysregu...

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Détails bibliographiques
Publié dans:Am J Med Genet C Semin Med Genet
Auteurs principaux: Rosenfeld, Elizabeth, Ganguly, Arupa, De León, Diva D.
Format: Artigo
Langue:Inglês
Publié: 2019
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7229866/
https://ncbi.nlm.nih.gov/pubmed/31414570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31737
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