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Article

Early Infantile Epileptic Encephalopathy In Asparagine-Linked Glycosylation Thirteen (ALG13) Gene Defect And Dramatic Response With Ketogenic Diet.

JPMA. The Journal of the Pakistan Medical Association - 1 Jul 2023

Chand Prem, Sulaiman Asna, Angez Meher, Kirmani Salman

Abstract excerpt

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. Worldwide there is a scarcity of available data on this. To add to this scarce data, we report the case of a young...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37469072
DOI: 10.47391/JPMA.6750

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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