Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Victor Daescu"'
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 11 (2023)
Abstract We aimed to characterize the clinical spectrum of patients diagnosed with SRD5A3-CDG, a subtype of congenital disorders of glycosylation (CDG) due to variants in the steroid 5a-reductase type 3 (SRD5A3) gene. It presents with multi-systemic
Externí odkaz:
https://doaj.org/article/d67f386963c2402db2a607af915ae0c6
