Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
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
A conserved role for AMP-activated protein kinase in NGLY1 deficiency.
Han SY et al.
Plos Genetics, 2020
NGLY1 deficiency-A rare congenital disorder of deglycosylation.
Lipari Pinto P et al.
Jimd Reports, 2020
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
Lipiński P et al.
Jimd Reports, 2020
Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency.
van Keulen BJ et al.
Physiological Reports, 2019
Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.
Heeley J et al.
American Journal of Medical Genetics. Part A, 2015
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