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- Journal article
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Nogueira, Célia Aiello, Chiara Cerone, Roberto Martins, Esmeralda Caruso, Ubaldo Moroni, Isabella Rizzo, Cristiano Diogo, Luísa Leão, Elisa Kok, Fernando Deodato, Federica Schiaffino, Maria Cristina Boenzi, Sara Danhaive, Olivier[UCL] Barbot, Clara Sequeira, Sílvia Locatelli, Mattia Santorelli, Filippo M Uziel, Graziella Vilarinho, Laura Dionisi-Vici, Carlo (2008) Molecular genetics and metabolism — Vol. 93, no.4, p. 475-480 (2008)