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Article

SLC35A2-CDG: novel variants with two ends of the spectrum.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Sept 2021

Kasapkara Çiğdem Seher, Ceylan Ahmet Cevdet, Özyürek Hamit, Karakaya Molla Gülhan, Civelek Ürey Burcu, Kıreker Köylü Oya, Küçükçongar Yavaş Aynur, Sönmez Fatma Müjgan

Abstract excerpt

OBJECTIVES: Congenital disorders of glycosylation (CDGs) are rare inherited metabolic disorders associated with facial dysmorphism and in the majority of the patients, there is an important neurological impairment. Epilepsy was a main concern in rare forms of the disease. There are two groups of the disease: CDG-I results from the defects in glycan addition to the N-terminal and CDG-II occurs due to defects in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34161696
DOI: 10.1515/jpem-2021-0292

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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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