Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation
| Autor: | 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. |
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| Zdroj: | In Molecular Genetics and Metabolism August 2019 127(4):368-372 |
| Databáze: | ScienceDirect |
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