Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease

Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease

Introduction: Type III glycogen storage disease (GSD III) is an autosomal recessive disorder in which a mutation in the AGL gene causes deficiency of the glycogen debranching enzyme. The disease is characterized by fasting hypoglycemia, hepatomegaly and progressive myopathy. Molecular analyses of AG...

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Bibliographic Details
Main Authors: Carolina Mantilla, Mónica Toro, María Elsy Sepúlveda, Margarita Insuasty, Diana di Filippo, Juan Álvaro López, Carolina Baquero, María Cristina Navas, Andrés Augusto Arias
Format: Article
Language:English
Published: Instituto Nacional de Salud 2018-05-01
Series:Biomédica: revista del Instituto Nacional de Salud
Subjects:
Glycogen storage disease type III/diagnosis
glycogen
glycogen debranching enzyme system
glycogenolysis
Online Access:https://www.revistabiomedica.org/index.php/biomedica/article/view/3454

Internet

https://www.revistabiomedica.org/index.php/biomedica/article/view/3454

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