Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
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
Published in Orphanet journal of rare diseases (26.10.2015)
Published in Orphanet journal of rare diseases (26.10.2015)
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Journal Article
Coenzyme Q10-responsive ataxia: 2-year-treatment follow-up
Pineda, Merce, Montero, Raquel, Aracil, Asuncion, O'Callaghan, Mar M., Mas, Ana, Espinos, Carmen, Martinez-Rubio, Dolores, Palau, Francesc, Navas, Placido, Briones, Paz, Artuch, Rafael
Published in Movement disorders (15.07.2010)
Published in Movement disorders (15.07.2010)
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Journal Article
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
Cassis, Linda, Cortès-Saladelafont, Elisenda, Molero-Luis, Marta, Yubero, Delia, González, Maria Julieta, Ormazábal, Aida, Fons, Carme, Jou, Cristina, Sierra, Cristina, Castejon Ponce, Esperanza, Ramos, Federico, Armstrong, Judith, O'Callaghan, M Mar, Casado, Mercedes, Montero, Raquel, Meavilla-Olivas, Silvia, Artuch, Rafael, Barić, Ivo, Bartoloni, Franco, Bellettato, Cinzia Maria, Bonifazi, Fedele, Ceci, Adriana, Cvitanović-Šojat, Ljerka, Dali, Christine I, D'Avanzo, Francesca, Fumic, Ksenija, Giannuzzi, Viviana, Lampe, Christina, Scarpa, Maurizio, Garcia-Cazorla, Ángels
Published in Orphanet journal of rare diseases (30.12.2015)
Published in Orphanet journal of rare diseases (30.12.2015)
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Journal Article
Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
Cassis, Linda, Cortès-Saladelafont, Elisenda, Molero-Luis, Marta, Yubero, Delia, González, Maria Julieta, Ormazábal, Aida, Fons, Carme, Jou, Cristina, Sierra, Cristina, Ponce, Esperanza Castejon, Ramos, Federico, Armstrong, Judith, O'Callaghan, M Mar, Casado, Mercedes, Montero, Raquel, Meavilla-Olivas, Silvia, Artuch, Rafael, Barić, Ivo, Bartoloni, Franco, Bellettato, Cinzia Maria, Bonifazi, Fedele, Ceci, Adriana, Cvitanović-Šojat, Ljerka, Dali, Christine I, D'Avanzo, Francesca, Fumic, Ksenija, Giannuzzi, Viviana, Lampe, Christina, Scarpa, Maurizio, Garcia-Cazorla, Ángels
Published in Orphanet journal of rare diseases (03.11.2016)
Published in Orphanet journal of rare diseases (03.11.2016)
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Journal Article
Coenzyme Q 10 ‐responsive ataxia: 2‐year‐treatment follow‐up
Pineda, Merce, Montero, Raquel, Aracil, Asuncion, O'Callaghan, Mar M., Mas, Ana, Espinos, Carmen, Martinez‐Rubio, Dolores, Palau, Francesc, Navas, Placido, Briones, Paz, Artuch, Rafael
Published in Movement disorders (15.07.2010)
Published in Movement disorders (15.07.2010)
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Journal Article
Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up
Pineda, Merce, Montero, Raquel, Aracil, Asuncion, O'Callaghan, Mar M, Mas, Ana, Espinos, Carmen, Martinez-Rubio, Dolores, Palau, Francesc, Navas, Placido, Briones, Paz, Artuch, Rafael
Published in Movement disorders (15.07.2010)
Published in Movement disorders (15.07.2010)
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Journal Article