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Article

MAN1B1-CDG: novel patients and novel variant.

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

Kasapkara Cigdem Seher, Olgac Asburce, Kilic Mustafa, Keldermans Liesbeth, Matthijs Gert, Jaeken Jaak

Abstract excerpt

OBJECTIVES: Congenital disorders of glycosylation (CDGs) are a group of genetic disorders due to hypoglycosylation of proteins and lipids. A type I pattern is associated with defects in glycan assembly and transfer (CDG-I; cytosol; and endoplasmic reticulum defects), a type II pattern is seen in processing defects of the Golgi apparatus. MAN1B1-CDG is an autosomal recessive CDG-II due to mutations in the α...

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Source

Identifiers

PMID: 34162022
DOI: 10.1515/jpem-2021-0038

Provenance

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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