Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

BACKGROUND: Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different...

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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Serrano, Mercedes, de Diego, Víctor, Muchart, Jordi, Cuadras, Daniel, Felipe, Ana, Macaya, Alfons, Velázquez, Ramón, Poo, M. Pilar, Fons, Carmen, O’Callaghan, M. Mar, García-Cazorla, Angels, Boix, Cristina, Robles, Bernabé, Carratalá, Francisco, Girós, Marisa, Briones, Paz, Gort, Laura, Artuch, Rafael, Pérez-Cerdá, Celia, Jaeken, Jaak, Pérez, Belén, Pérez-Dueñas, Belén
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4623922/
https://ncbi.nlm.nih.gov/pubmed/26502900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0358-y
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