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 )
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
35565658 (PubMed )
Supplement: nutrients-14-01690-s001.zip › Supplementary_Table_S2._Reported_patients_with_NGLY1_mutations.xlsx › Total
NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology.
Pandey A et al.
Cells, 2022
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
Dabaj I et al.
Life (basel, Switzerland), 2021
33673403 (PubMed )
Supplement: life-11-00187-s001.zip › Dabaj_et_al_CDDG_suplementary_data_20210214.xlsx › meta_data
Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation.
Lipiński P et al.
Frontiers in Pediatrics, 2021
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
Lipiński P et al.
Jimd Reports, 2020
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