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Literature DB >> 32246563

Mannosyl-oligosaccharide glucosidase - congenital disorder of glycosylation: A patient with novel variants.

Mikito Ota¹, Jun Miyahara¹, Ayumi Itano², Hiroshi Sugiura¹, Shigeru Ohki¹.

Abstract

Entities: Disease Gene Species

Keywords: zzm321990MOGSzzm321990; congenital disorder of glycosylation; whole exome sequencing

Mesh：

Substances：

Year: 2020 PMID： 32246563 DOI： 10.1111/ped.14110

Source DB: PubMed Journal: Pediatr Int ISSN： 1328-8067 Impact factor: 1.524

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1 in total

1. Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports.

Authors: Kuerbanjiang Abuduxikuer; Lei Wang; Lin Zou; Cui-Yan Cao; Long Yu; Hong-Mei Guo; Xin-Miao Liang; Jian-She Wang; Li Chen
Journal: World J Clin Cases Date: 2022-07-26 Impact factor: 1.534

1 in total