title: MPV17: fatal hepatocerebral presentation in a Brazilian infant.
authors.forename: Célia
authors.initials: C
authors.lastname: Nogueira
authors.forename: Carolina F M
authors.initials: CF
authors.lastname: de Souza
authors.forename: Antonette
authors.initials: A
authors.lastname: Husny
authors.forename: Terry G J
authors.initials: TG
authors.lastname: Derks
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Laura
authors.initials: L
authors.lastname: Vilarinho
mesh_terms: D001938:Brazil; D004272:DNA, Mitochondrial / Q000378:metabolism; D017809:Fatal Outcome; D006501:Hepatic Encephalopathy / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial; C530370:MPV17 protein, human; D008565:Membrane Proteins; D024101:Mitochondrial Proteins