Early Infantile Epileptic Encephalopathy in asparagine-linked glycosylation thirteen (ALG13) gene defect and dramatic response with Ketogenic diet

Asparagine-linked glycosylation thirteen (ALG13) gene-related congenital disorders of glycosylation (CDGs) include early onset epileptic encephalopathy (EIEE), developmental delays (DD) with intellectual disability (ID), speech and visual abnormalities, and haematologic and endocrine dysfunctions....

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Bibliographic Details
Main Authors: Prem Chand, Asna Sulaiman, Meher Angez, Salman Kirmani
Format: Article
Language:English
Published: Pakistan Medical Association 2023-06-01
Series:Journal of the Pakistan Medical Association
Online Access:https://ojs.jpma.org.pk/index.php/public_html/article/view/6750