NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation

Autor: Ivana Dabaj, Bénédicte Sudrié-Arnaud, François Lecoquierre, Kimiyo Raymond, Franklin Ducatez, Anne-Marie Guerrot, Sarah Snanoudj, Sophie Coutant, Pascale Saugier-Veber, Stéphane Marret, Gaël Nicolas, Abdellah Tebani, Soumeya Bekri

Publikováno v: Life, Vol 11, Iss 3, p 187 (2021)

NGLY1 deficiency is the first recognized autosomal recessive disorder of N-linked deglycosylation (NGLY1-CDDG). This severe multisystemic disease is still poorly known and, to date, most cases have been diagnosed through whole exome or genome sequenc

Externí odkaz: https://doaj.org/article/c93a77fd112040858a0f105c6bb0c938

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

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

Publikováno v: Molecular genetics and metabolism, 127(4), 368-372. Academic Press Inc.
Molecular Genetics and Metabolism, 127(4), 368. Academic Press Inc.

Background NGLY1-CDDG is a congenital disorder of deglycosylation caused by a defective peptide:N-glycanase (PNG). To date, all but one of the reported patients have been diagnosed through whole-exome or whole-genome sequencing, as no biochemical mar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24a22065ce3decf8730b17d2c8176b80
https://pure.amc.nl/en/publications/aspartylglycosamine-is-a-biomarker-for-ngly1cddg-a-congenital-disorder-of-deglycosylation(ae233d76-3112-45ca-99e8-1a585677b29c).html

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