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

Autor: Stanclift, Caroline R.1 (AUTHOR), Dwight, Selina S.1 (AUTHOR), Lee, Kevin1 (AUTHOR), Eijkenboom, Quirine L.1 (AUTHOR), Wilsey, Matt1 (AUTHOR), Wilsey, Kristen1 (AUTHOR), Kobayashi, Erica Sanford2 (AUTHOR), Tong, Sandra1 (AUTHOR) sandy@gracescience.org, Bainbridge, Matthew N.2 (AUTHOR) mbainbridge@gmail.com
Zdroj: Orphanet Journal of Rare Diseases. 12/17/2022, Vol. 17 Issue 1, p1-8. 8p.
Databáze: Academic Search Ultimate
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