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Article

ALG11-CDG: novel variant and review of the literature.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Apr 2023

Erdal Ayşenur Engin, Ceylan Ahmet Cevdet, Gücüyener Kıvılcım, Öktem Rıdvan Murat, Kıreker Köylü Oya, Kasapkara Çiğdem Seher

Abstract excerpt

OBJECTIVES: Asparagine-dependent glycosylation 11-congenital disorders of glycosylation (ALG11-CDG) is a rare autosomal recessive N-glycosylation defect with multisystem involvement particularly neurological symptoms such as epilepsy and neuromotor developmental delay. CASE PRESENTATION: A 31-month-old male patient admitted to our center with complaints of axial hypotonia, drug-resistant myoclonic seizures,...

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Identifiers

PMID: 36843332
DOI: 10.1515/jpem-2022-0480

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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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