Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation-Reference-Cited by-同舟云学术

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

Published:2019-08 Issue:4 Volume:127 Page:368-372
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Haijes Hanneke A.,de Sain-van der Velden Monique G.M.,Prinsen Hubertus C.M.T.,Willems Anke P.,van der Ham Maria,Gerrits Johan,Couse Madeline H.,Friedman Jan M.,van Karnebeek Clara D.M.,Selby Kathryn A.,van Hasselt Peter M.,Verhoeven-Duif Nanda M.,Jans Judith J.M.

Funder

Canadian Institutes of Health Research

BC Children's Hospital Foundation

Michael Smith Foundation for Health Research

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference12 articles.

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3. Direct infusion based metabolomics identifies metabolic disease in patients' dried blood spots and plasma;Haijes;Metabolites,2019

4. Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency;Hall;Mol. Genet. Metab.,2018

5. Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations;Heeley;Am. J. Med. Genet. A,2015

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