NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry

Orphanet Journal of Rare Diseases

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

【 图 表 】

Fig. 4

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