Article
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.
Orphanet journal of rare diseases - 17 Dec 2022
Stanclift Caroline R, Dwight Selina S, Lee Kevin, Eijkenboom Quirine L, Wilsey Matt, Wilsey Kristen, Kobayashi Erica Sanford, Tong Sandra, Bainbridge Matthew N
Abstract excerpt
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 incidence of this disorder. METHODS: The Grace Science Foundation collected genotypic data from 74 NGLY1 Deficiency patients, of...
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