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Article

Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams.

Neurogenetics - 1 Apr 2020

Peiwei Zhao, Peng Xuehua, Luo Sukun, Huang Yufeng, Tan Li, Shao Jianbo, He Xuelian

Abstract excerpt

Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of disorders caused by the defects in the synthesis and processing of glycoproteins. CDG is caused by mannosyl-oligosaccharide glucosidase (MOGS) deficiency, and is an extremely rare type, and only six patients have been reported. Here, we report a patient from China with facial dysmorphism, infantile spams, developmental delay,...

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Identifiers

PMID: 31925597
DOI: 10.1007/s10048-019-00590-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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