title: Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient.
authors.forename: Dimitra
authors.initials: D
authors.lastname: Lianou
authors.forename: Lorena
authors.initials: L
authors.lastname: Gallego
authors.forename: Helen
authors.initials: H
authors.lastname: Michelakakis
authors.forename: Celia
authors.initials: C
authors.lastname: Pérez-Cerdá
authors.forename: Belén
authors.initials: B
authors.lastname: Pérez
authors.forename: Stavroula
authors.initials: S
authors.lastname: Ginis
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
authors.forename: Magdalena
authors.initials: M
authors.lastname: Ugarte
authors.forename: Lourdes R
authors.initials: LR
authors.lastname: Desviat
mesh_terms: D006801:Humans; D007223:Infant; D008297:Male; D043586:Methylmalonyl-CoA Decarboxylase / Q000235:genetics*; D009154:Mutation; D056693:Propionic Acidemia / Q000201:enzymology / Q000235:genetics*
chemical_list: D043586:Methylmalonyl-CoA Decarboxylase