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

作者信息

Ota Mikito, Miyahara Jun, Itano Ayumi, Sugiura Hiroshi, Ohki Shigeru

机构信息

Department of Neonatal Medicine, Seirei Hamamatsu General Hospital, Hamamatsu, Japan.

Department of Pediatrics, Seirei Mikatahara General Hospital, Hamamatsu, Japan.

出版信息

Pediatr Int. 2020 Mar;62(3):417-418. doi: 10.1111/ped.14110.

DOI:10.1111/ped.14110
PMID:32246563
Abstract
摘要

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引用本文的文献

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Neurogenetics. 2024 Jul;25(3):281-286. doi: 10.1007/s10048-024-00754-y. Epub 2024 Mar 18.
2
Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports.甘露糖寡糖葡糖苷酶缺乏症的最新临床和糖组学特征：两例病例报告
World J Clin Cases. 2022 Jul 26;10(21):7397-7408. doi: 10.12998/wjcc.v10.i21.7397.
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Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
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J Med Genet. 2022 Jul 5. doi: 10.1136/jmedgenet-2021-108177.