S. Muro

New frequent mutation in the PCCB gene in Spanish propionic acidemia patients

J. Hoenicka, E. Richard, C. Pérez-Cerdá, 1998, Human mutation.

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

E. Richard, C. Pérez-Cerdá, A. Ribes, 2000, European Journal of Human Genetics.

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

J. Hoenicka, E. Richard, C. Pérez-Cerdá, 1998, American journal of human genetics.

Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2001, Molecular genetics and metabolism.

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia

E. Richard, C. Pérez-Cerdá, M. Ugarte, 1999, Human mutation.

An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis

J. Hoenicka, E. Richard, C. Pérez-Cerdá, 1998, European Journal of Pediatrics.

Identification of novel mutations in the PCCB gene in European propionic acidemia patients

C. Pérez-Cerdá, J. Sass, M. Ugarte, 1999, Human mutation.