Publications:

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

Orphanet Journal Of Rare Diseases

Serrano, Mercedes M; de Diego, Víctor V; Muchart, Jordi J; Cuadras, Daniel D; Felipe, Ana A; Macaya, Alfons A; Velázquez, Ramón R; Poo, M Pilar MP; Fons, Carmen C; O'Callaghan, M Mar MM; García-Cazorla, Angels A; Boix, Cristina C; Robles, Bernabé B; Carratalá, Francisco F; Girós, Marisa M; Briones, Paz P; Gort, Laura L; Artuch, Rafael R; Pérez-Cerdá, Celia C; Jaeken, Jaak J; Pérez, Belén B; Pérez-Dueñas, Belén B

Publication Date: 2015-10-26

Variant appearance in text: PC: L32R

PubMed Link: 26502900

Variant Present in the following documents:

• Main text

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