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
Functional prediction of the potential NGLY1 mutations associated with rare disease CDG.
Yuan S et al.
Heliyon, 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
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
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
Lipiński P et al.
Jimd Reports, 2020
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Haijes HA et al.
Molecular Genetics and Metabolism, 2019
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