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Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

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author: Luísa Diogo  Filippo Maria Santorelli  Célia Nogueira  Chiara Aiello  Olivier Danhaive  Esmeralda G. Martins  Carlo Dionisi-Vici  Isabella Moroni  Clara Barbot 

Publication date December 27, 2007
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