PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 34697629-0 2022 GlcNAc-Asn (GNA) is a biomarker for NGLY1 deficiency. N-acetylglucosaminylasparagine 0-10 N-glycanase 1 Homo sapiens 36-41 34697629-3 2022 We demonstrate that N-acetylglucosamine-asparagine (GlcNAc-Asn; GNA), is the analyte most closely associated with NGLY1 deficiency, showing consistent separation in levels between patients and controls. N-acetylglucosaminylasparagine 52-62 N-glycanase 1 Homo sapiens 114-119 31311714-0 2019 Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation. N-acetylglucosaminylasparagine 0-19 N-glycanase 1 Homo sapiens 39-44 31311714-0 2019 Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation. N-acetylglucosaminylasparagine 0-19 N-glycanase 1 Homo sapiens 45-49 31311714-6 2019 RESULTS: We identified aspartylglycosamine as the only significantly increased compound with a median Z-score of 4.8 (range: 3.8-8.5) in DBS of NGLY1-CDDG patients, compared to a median Z-score of -0.1 (range: -2.1-4.0) in DBS of healthy controls and patients with other diseases. N-acetylglucosaminylasparagine 23-42 N-glycanase 1 Homo sapiens 144-149 31311714-6 2019 RESULTS: We identified aspartylglycosamine as the only significantly increased compound with a median Z-score of 4.8 (range: 3.8-8.5) in DBS of NGLY1-CDDG patients, compared to a median Z-score of -0.1 (range: -2.1-4.0) in DBS of healthy controls and patients with other diseases. N-acetylglucosaminylasparagine 23-42 N-glycanase 1 Homo sapiens 150-154 31311714-7 2019 DISCUSSION: The increase of aspartylglycosamine can be explained by lack of function of PNG. N-acetylglucosaminylasparagine 28-47 N-glycanase 1 Homo sapiens 88-91 31311714-10 2019 Thus, we here identified aspartylglycosamine as the first potential small-molecule biomarker in DBS for NGLY1-CDDG, making a biochemical diagnosis for NGLY1-CDDG potentially feasible. N-acetylglucosaminylasparagine 25-44 N-glycanase 1 Homo sapiens 104-109 31311714-10 2019 Thus, we here identified aspartylglycosamine as the first potential small-molecule biomarker in DBS for NGLY1-CDDG, making a biochemical diagnosis for NGLY1-CDDG potentially feasible. N-acetylglucosaminylasparagine 25-44 N-glycanase 1 Homo sapiens 110-114 31311714-10 2019 Thus, we here identified aspartylglycosamine as the first potential small-molecule biomarker in DBS for NGLY1-CDDG, making a biochemical diagnosis for NGLY1-CDDG potentially feasible. N-acetylglucosaminylasparagine 25-44 N-glycanase 1 Homo sapiens 151-156 31311714-10 2019 Thus, we here identified aspartylglycosamine as the first potential small-molecule biomarker in DBS for NGLY1-CDDG, making a biochemical diagnosis for NGLY1-CDDG potentially feasible. N-acetylglucosaminylasparagine 25-44 N-glycanase 1 Homo sapiens 157-161