Browsing by Author Campistol Plana, Jaume
Showing results 8 to 13 of 13
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Issue Date | Title | Author(s) |
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30-Nov-2022 | Leigh syndrome is the main clinical characteristic of PTCD3 deficiency | Muñoz Pujol, Gerard; Ortigoza Escobar, Juan D.; Paredes Fuentes, Abraham J.; Jou, Cristina; Ugarteburu López, Olatz; Gort, Laura; Yubero, Delia; Garcia Cazorla, Angels; O'Callaghan, Mar; Campistol Plana, Jaume; Muchart, Jordi.; Yépez, Vicente A.; Gusic, Mirjana; Gagneur, Julien; Prokisch, Holger; Artuch Iriberri, Rafael; Ribes, Antonia; Urreizti, Roser; Tort, Frederic |
23-Mar-2015 | Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations | Brito, 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-2015 | Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes | Nakagawa, 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; Buján Rivas, 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-2017 | Subtle Visuomotor deficits and reduced benefit from practice in early treated phenylketonuria | Caprile, C.; Campistol Plana, Jaume; Puigcerver, L.; Gutiérrez-Mata, A-P.; Alonso-Colmenero, I.; Colomé, Roser; Navarra Ordoño, Jordi |
31-May-2016 | Targeted next generation sequencing in patients with inborn errors of metabolism | Yubero 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 |
2010 | Trombosis venosas cerebrales en la edad pediátrica: presentación clínica, factores de riesgo, diagnóstico y tratamiento | Russi, M Eugenia; González, Verónica; Campistol Plana, Jaume |