Persistent hyperinsulinemic hypoglycemia of infancy

M. Michael Cohen

doi:10.1002/ajmg.a.20480

Persistent hyperinsulinemic hypoglycemia of infancy

M. Michael Cohen

Medicine

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13 Citations (Scopus)

Résumé

In persistent hyperinsulinemic hypoglycemia (PHHI) of infancy, secretion of insulin is unregulated, resulting in profound hypoglycemia. Two histopathologic forms are known: focal adenomatous islet-cell hyperplasia and diffuse abnormalities of β-cell hyperfunction. PHHI is caused by mutations in SUR1, which is a member of the ATP-binding cassette superfamily, and in Kir6.2, which is a member of the inwardly rectifying family of potassium channels.

Langue d'origine	English
Pages (de-à)	351-353
Nombre de pages	3
Journal	American Journal of Medical Genetics, Part A
Volume	122 A
Numéro de publication	4
DOI	https://doi.org/10.1002/ajmg.a.20480
Statut de publication	Published - nov. 1 2003

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.20480

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AB - In persistent hyperinsulinemic hypoglycemia (PHHI) of infancy, secretion of insulin is unregulated, resulting in profound hypoglycemia. Two histopathologic forms are known: focal adenomatous islet-cell hyperplasia and diffuse abnormalities of β-cell hyperfunction. PHHI is caused by mutations in SUR1, which is a member of the ATP-binding cassette superfamily, and in Kir6.2, which is a member of the inwardly rectifying family of potassium channels.

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Persistent hyperinsulinemic hypoglycemia of infancy

Résumé

ASJC Scopus Subject Areas

Accès au document

Autres fichiers et liens

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