Orphanet J Rare Dis. 2022 Dec 17;17(1):440. doi: 10.1186/s13023-022-02592-3.
NO ABSTRACT
PMID:36528660 | DOI:10.1186/s13023-022-02592-3
Categories
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry
