Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Rafael Artuch"'
Autor:
Begoña Merinero, Concepción Robles, Joana Fort, Aida Ormaizabal, Mariona Font-Llitjós, Joaquín Dopazo, Alfonso Oyarzabal, Patricia Alcaide, Pedro Ruiz-Sala, Anna López-Sala, Anna Pristoupilova, Magdalena Ugarte, Rosa Navarrete, Susanna Bodoy, Ma Antonia Vilaseca, Esperanza Castejón, Virginia Nunes, Angels García-Cazorla, Rafael Artuch, Sergi Beltran Agulló, Manuel Palacín, Pilar Rodríguez-Pombo, P. Sanz
Publikováno v:
Human Mutation. 35:470-477
Inactivating mutations in the BCKDK gene, which codes for the kinase responsible for the negative regulation of the branched-chain α-keto acid dehydrogenase complex (BCKD), have recently been associated with a form of autism in three families. In th
Autor:
Eduardo Ruiz-Pesini, Mercedes Benac, Magdalena Carreras, Mercedes Pineda, Rafael Artuch, Julio Montoya, Manuel J. López-Pérez, Ester López-Gallardo, Maria Antonia Vilaseca, Miguel Angel Idoate, Paz Briones, Maria Dolores Herrero-Martín
Publikováno v:
Human Mutation. 29:E112-E122
A disorder of mitochondrial energy metabolism may be missed in children with a very mild phenotype. Here, we described a patient with a moderate mental retardation and a mild exercise intolerance. This child harboured a mtDNA transition (m.6955G>A) i