Associated Papers
Delineating the epilepsy phenotype of NGLY1 deficiency.
Levy RJ et al.
Journal of Inherited Metabolic Disease, 2022
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
A method for assaying peptide: N-glycanase/N-glycanase 1 activities in crude extracts using an N-glycosylated cyclopeptide.
Hirayama H et al.
Glycobiology, 2022
34939090 (PubMed )
Supplement: supplement_figure1-4_cwab115.docx
Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.
Rios-Flores IM et al.
European Journal of Medical Genetics, 2020
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