Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome.

Aka, Sibel; Alanay, Yasemin; Boodhansingh, Kara E; Stanley, Charles A; Semiz, Serap

Aka, Sibel; Alanay, Yasemin; Boodhansingh, Kara E; Stanley, Charles A; Semiz, Serap.

Afiliación

Aka S; Acibadem University Faculty of Medicine, Division of General Pediatrics, Istanbul, Turkey.
Alanay Y; Acibadem University Faculty of Medicine, Division of Genetics, Istanbul, Turkey.
Boodhansingh KE; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.
Stanley CA; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.
Semiz S; Acibadem University Faculty of Medicine, Division of Pediatrics Endocinology, Istanbul, Turkey.

Turk J Pediatr ; 58(5): 541-544, 2016.

Article en En | MEDLINE | ID: mdl-28621098

Asunto(s)

Glutamato Deshidrogenasa/genética; Hiperinsulinismo/diagnóstico; Hipoglucemia/diagnóstico; Convulsiones/etiología; Preescolar; Discapacidades del Desarrollo/complicaciones; Femenino; Heterocigoto; Humanos; Masculino; Mutación

Palabras clave

hyperammonemia; hyperinsulinism

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Convulsiones / Glutamato Deshidrogenasa / Hiperinsulinismo / Hipoglucemia Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Female / Humans / Male Idioma: En Revista: Turk J Pediatr Año: 2016 Tipo del documento: Article País de afiliación: Turquía

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