Associated Papers
NGLY1 deficiency - clinical features and therapeutic strategy.
Fujihira H et al.
Journal of Human Genetics, 2025
NGLY1-CDDG: report of two cases from India and brief review of literature.
Dave MB et al.
Journal of Genetics, 2025
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.
Stanclift CR et al.
Orphanet Journal of Rare Diseases, 2022
36528660 (PubMed )
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