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Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular dystroglycanopathies (MD). Initial screening of CDG is usua...

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Detalles Bibliográficos
Autores principales: Heywood, Wendy E., Bliss, Emily, Mills, Philippa, Yuzugulen, Jale, Carreno, Gabriela, Clayton, Peter T., Muntoni, Francesco, Worthington, Viki C., Torelli, Silvia, Sebire, Neil J., Mills, Kevin, Grunewald, Stephanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4834675/
https://www.ncbi.nlm.nih.gov/pubmed/27134828
http://dx.doi.org/10.1016/j.ymgmr.2016.03.002