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    • Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group 

      Merinero, B.; Pérez, B.; Pérez Cerda, C.; Rincón, A.; Desviat, L. R.; Martínez, M. A.; Ruiz Sala, P; García, M. J.; Aldamiz Echevarría, L.; Campos, J.; Cornejo Espinoza, Verónica; Toro, M. del; Mahfoud, A.; Martínez Pardo, M.; Parini, R.; Pedrón, C.; Peña Quintana, L.; Pérez, M.; Pourfarzam, M.; Ugarte, M. (SPRINGER, 2008-02)
      Methylmalonic acidaemia (MMA) is a genetic disorder caused by defects in methylmalonyl-CoA mutase or in any of the different proteins involved in the synthesis of adenosylcobalamin. The aim of this work was to examine the ...