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

@article{Nogueira2008SpectrumOM,
  title={Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.},
  author={C{\'e}lia Nogueira and Chiara Aiello and Roberto Cerone and Esmeralda Martins and Ubaldo Caruso and Isabella Moroni and Cristiano Rizzo and Lu{\'i}sa Diogo and Elisa Le{\~a}o and F Kok and Federica Deodato and Maria Cristina Schiaffino and Sara Boenzi and Olivier Danhaive and Clara Barbot and S{\'i}lvia Sequeira and Mattia Locatelli and Filippo Maria Santorelli and Graziella Uziel and Laura Vilarinho and Carlo Dionisi-Vici},
  journal={Molecular genetics and metabolism},
  year={2008},
  volume={93 4},
  pages={
          475-80
        }
}
Methylmalonic aciduria (MMA) and homocystinuria, cblC type (MIM 277400) is the most frequent inborn error of vitamin B(12). The recent identification of the disease gene, MMACHC, has permitted preliminary genotype-phenotype correlations. We studied 24 Italian and 17 Portuguese patients with cblC defect to illustrate the spectrum of mutations in a southern European population and discuss the impact that mutation identification has on routine diagnostic procedures. Since the metabolic defect… CONTINUE READING

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