Article
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Molecular genetics and metabolism - 1 Apr 2008
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, Barbot Clara, Sequeira Sílvia, Locatelli Mattia, Santorelli Filippo M, Uziel Graziella, Vilarinho Laura, Dionisi-Vici Carlo
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.