C. Pedrón

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

C. Pérez-Cerdá, B. Merinero, M. Martínez-Pardo, 2008, Journal of Inherited Metabolic Disease.

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

I. T. de Almeida, X. de la Cruz, C. Riera, 2018, Orphanet Journal of Rare Diseases.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

M. Baumgartner, E. Rodrigues, C. Ortez, 2015, Journal of Inherited Metabolic Disease.