期刊论文详细信息
Orphanet Journal of Rare Diseases | |
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry | |
Research | |
Kevin Lee1  Matt Wilsey1  Selina S. Dwight1  Sandra Tong1  Caroline R. Stanclift1  Quirine L. Eijkenboom1  Kristen Wilsey1  Erica Sanford Kobayashi2  Matthew N. Bainbridge2  | |
[1] Grace Science Foundation, P.O. Box 114, Menlo Park, CA, USA;Rady Children’s Institute for Genomic Medicine, 3020 Children’s Way, San Diego, CA, USA; | |
关键词: NGLY1 deficiency; Congenital disorder of deglycosylation; Incidence; Rare diseases; Patient registry; | |
DOI : 10.1186/s13023-022-02592-3 | |
received in 2022-06-16, accepted in 2022-12-07, 发布年份 2022 | |
来源: Springer | |
【 授权许可】
CC BY
© The Author(s) 2022
【 预 览 】
Files | Size | Format | View |
---|---|---|---|
RO202305065884906ZK.pdf | 1180KB | download | |
MediaObjects/12888_2022_4350_MOESM1_ESM.docx | 54KB | Other | download |
13690_2022_1011_Article_IEq2.gif | 1KB | Image | download |
MediaObjects/12888_2022_4373_MOESM1_ESM.docx | 40KB | Other | download |
Fig. 4 | 472KB | Image | download |
【 图 表 】
Fig. 4
13690_2022_1011_Article_IEq2.gif
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