Browsing by Author Campistol Plana, Jaume

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Showing results 6 to 12 of 12 < previous 
Issue DateTitleAuthor(s)
2011Experiencia con la dieta cetogénica como tratamiento en la epilepsia refractariaRamírez Camacho, Alia; Meavilla, Silvia; Catalán, Natalia; Gutiérrez, Alejandra; Campistol Plana, Jaume
11-Feb-2016GDF-15 is elevated in children with mitochondrial diseases and is induced by mitochondrial dysfunctionMontero Sánchez, Raquel; Yubero Siles, Dèlia; Villarroya i Terrade, Joan; Henares, Desiree; Jou, Cristina; Rodríguez, María Angeles; Ramos, Federico; Nascimento, Andrés; Ortez, Carlos Ignacio; Campistol Plana, Jaume; Pérez Dueñas, Belén; O'Callaghan, Mar; Pineda Marfà, Mercè; Garcia-Cazorla, Àngels; Oferil, Jaume Colomer; Montoya, Julio; Ruiz Pesini, Eduardo; Emperador, Sonia; Meznaric, Marija; Campderrós Traver, Laura; Kalko, Susana; Villarroya i Gombau, Francesc; Artuch Iriberri, Rafael; Jiménez Mallebrera, Cecilia
23-Mar-2015Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutationsBrito, Sara; Thompson, Kyle; Campistol Plana, Jaume; Colomer Oferil, Jaume; Hardy, Steven A.; Langping, He; Fernández Marmiesse, Ana; Palacios, Lourdes; Jou, Cristina; Jiménez Mallebrera, Cecilia; Armstrong i Morón, Judith; Montero Sánchez, Raquel; Artuch Iriberri, Rafael; Tischner, Christin; Wenz, Tina; McFarland, Robert; Taylor, Robert W.
Mar-2015Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromesNakagawa, Kenji; Gonzalez Roca, Eva; Souto, Alejandro; Kawai, Toshinao; Umebayashi, Hiroaki; Campistol Plana, Jaume; Cañellas, Jeronima; Takei, Syuji; Kobayashi, Norimoto; Callejas Rubio, José Luis; Ortego Centeno, Norberto; Ruiz Ortiz, Estíbaliz; Rius, Fina; Antón López, Jordi; Iglesias Jiménez, Estíbaliz; Jiménez Treviño, Santiago; Vargas, Carmen; Fernandez Martin, Julian; Calvo, Inmaculada; Hernández Rodríguez, José; Méndez, María; Dordal, María Teresa; Basagaña, Maria; Bujan, Segundo; Yashiro, Masato; Kubota, Tetsuo; Koike, Ryuji; Akuta, Naoko; Shimoyama, Kumiko; Iwata, Naomi; Saito, Megumu K.; Ohara, Osamu; Kambe, Naotomo; Yasumi, Takahiro; Izawa, Kazushi; Kawai, Tomoki; Heike, Toshio; Yagüe, Jordi; Nishikomori, Ryuta; Aróstegui Gorospe, Juan Ignacio
1-Dec-2017Subtle Visuomotor deficits and reduced benefit from practice in early treated phenylketonuriaCaprile, C.; Campistol Plana, Jaume; Puigcerver, L.; Gutiérrez-Mata, A-P.; Alonso-Colmenero, I.; Colomé, Roser; Navarra Ordoño, Jordi
31-May-2016Targeted next generation sequencing in patients with inborn errors of metabolismYubero Siles, Dèlia; Brandi, Nuria; Ormazabal Herrero, Aida; Garcia-Cazorla, Àngels; Pérez Dueñas, Belén; Campistol Plana, Jaume; Ribes Rubió, Maria Antònia; Palau Martínez, Francesc; Artuch Iriberri, Rafael; Armstrong i Morón, Judith
2010Trombosis venosas cerebrales en la edad pediátrica: presentación clínica, factores de riesgo, diagnóstico y tratamientoRussi, M Eugenia; González, Verónica; Campistol Plana, Jaume