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GlcNAc-Asn is a biomarker for NGLY1 deficiency

Substrate-derived biomarkers are necessary in slowly progressing monogenetic diseases caused by single-enzyme deficiencies to identify affected patients and serve as surrogate markers for therapy response. N-glycanase 1 (NGLY1) deficiency is an ultra-rare autosomal recessive disorder characterized b...

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Detalles Bibliográficos
Autores principales:	Mueller, William F, Zhu, Lei, Tan, Brandon, Dwight, Selina, Beahm, Brendan, Wilsey, Matt, Wechsler, Thomas, Mak, Justin, Cowan, Tina, Pritchett, Jake, Taylor, Eric, Crawford, Brett E
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Regular Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8863169/ https://www.ncbi.nlm.nih.gov/pubmed/34697629 http://dx.doi.org/10.1093/jb/mvab111

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