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

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

Abstract Purpose NGLY1 Deficiency is an ultra-rare, multisystemic disease caused by biallelic pathogenic NGLY1 variants. The aims of this study were to (1) characterize the variants and clinical features of the largest cohort of NGLY1 Deficiency patients reported to date, and (2) estimate the incide...

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Bibliographic Details
Main Authors: Caroline R. Stanclift, Selina S. Dwight, Kevin Lee, Quirine L. Eijkenboom, Matt Wilsey, Kristen Wilsey, Erica Sanford Kobayashi, Sandra Tong, Matthew N. Bainbridge
Format: Article
Language:English
Published: BMC 2022-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
NGLY1 deficiency
Congenital disorder of deglycosylation
Incidence
Rare diseases
Patient registry
Online Access:https://doi.org/10.1186/s13023-022-02592-3

Internet

https://doi.org/10.1186/s13023-022-02592-3

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