Tutto DSpace

Sfoglia per Soggetto "glycogen storage disease"

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    • Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) 

      Pinós T., Andreu A.L., Bruno C., Hadjigeorgiou G.M., Haller R.G., Laforêt P., Lucía A., Martín M.A., Martinuzzi A., Navarro C., Oflazer P., Pouget J., Quinlivan R., Sacconi S., Scalco R.S., Toscano A., Vissing J., Vorgerd M., Wakelin A., Martí R., Baruch N., Ortega F.J., San-Millán B., Vieitez I., Vavla M., Musumeci O., Scalco R., Hadjgeorgiou G., Zintzaras E., Zülow E., Haller R., Durmus H., Santalla A., EUROMAC Consortium (2020)
      Background: International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these ...

    • Editorial for special issue “genetic basis and epidemiology of myopathies” 

      Peristeri E., Dardiotis E. (2021)
      We are pleased to announce a Special Issue on the Genetic Basis and Epidemiology of Myopathies. This Special Issue is collecting papers pertaining to various lines of research focusing on the genetic basis and the epidemiology ...