Associated Papers
NGLY1 deficiency - clinical features and therapeutic strategy.
Fujihira H et al.
Journal of Human Genetics, 2025
Structural and Functional Characterization of N-Glycanase-1 Pathogenic Variants.
Banning A et al.
Cells, 2025
NGLY1-CDDG: report of two cases from India and brief review of literature.
Dave MB et al.
Journal of Genetics, 2025
Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.
Sonoda Y et al.
European Journal of Medical Genetics, 2024
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 )
Supplement: 13023_2022_2592_MOESM1_ESM.docx
Comprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation.
Miao X et al.
Nutrients, 2022
NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology.
Pandey A et al.
Cells, 2022
[Brain atrophy and disorders of the amino acid metabolism].
Bickel H
Monatsschrift Fur Kinderheilkunde, 1967
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