Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report.

de las Heras, Javier; Garin, Intza; de Nanclares, Guiomar Perez; Aguayo, Anibal; Rica, Itxaso; Castaño, Luis; Vela, Amaia

de las Heras, Javier; Garin, Intza; de Nanclares, Guiomar Perez; Aguayo, Anibal; Rica, Itxaso; Castaño, Luis; Vela, Amaia.

Affiliation

de las Heras J; Endocrinology and Diabetes Research Group, Cruces Hospital, CIBERDEM CIBERER Barakaldo, Vizcaya, Spain.

J Pediatr Endocrinol Metab ; 23(8): 827-30, 2010 Aug.

Article in En | MEDLINE | ID: mdl-21073125

Subject(s)

Congenital Hyperinsulinism/genetics; Hyperammonemia/genetics; Seizures/genetics; Adult; Anticonvulsants/therapeutic use; Child, Preschool; Congenital Hyperinsulinism/diagnosis; Congenital Hyperinsulinism/drug therapy; Family Health; Female; Glutamate Dehydrogenase/genetics; Humans; Hyperammonemia/diagnosis; Hyperammonemia/drug therapy; Mothers; Mutation; Seizures/diagnosis; Seizures/drug therapy; Syndrome; Valproic Acid/therapeutic use

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Collection: 01-internacional Database: MEDLINE Main subject: Seizures / Hyperammonemia / Congenital Hyperinsulinism Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Child, preschool / Female / Humans Language: En Journal: J Pediatr Endocrinol Metab Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2010 Document type: Article Affiliation country: Spain

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