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Homocarnosinosis: A historical update and findings in the SPG11 gene.
Sjaastad, O; Blau, N; Rydning, S L; Peters, V; Rødningen, O; Stray-Pedersen, A; Krossnes, B; Tallaksen, C; Koht, J.
Afiliação
  • Sjaastad O; Department of Neurology, St.Olavs Hospital, Trondheim University Hospital, Trondheim, Norway.
  • Blau N; Centre for Pediatric and Adolescence Medicine, University of Heidelberg, Heidelberg, Germany.
  • Rydning SL; Department of Neurology, Oslo University Hospital, Oslo, Norway.
  • Peters V; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
  • Rødningen O; Centre for Pediatric and Adolescence Medicine, University of Heidelberg, Heidelberg, Germany.
  • Stray-Pedersen A; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Krossnes B; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
  • Tallaksen C; Norwegian National Unit for Newborn Screening at Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Koht J; Department of Pathology, Oslo University Hospital, Oslo, Norway.
Acta Neurol Scand ; 138(3): 245-250, 2018 Sep.
Article em En | MEDLINE | ID: mdl-29732542

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Encefalopatias Metabólicas Congênitas / Dipeptidases / Erros Inatos do Metabolismo dos Aminoácidos Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Encefalopatias Metabólicas Congênitas / Dipeptidases / Erros Inatos do Metabolismo dos Aminoácidos Idioma: En Ano de publicação: 2018 Tipo de documento: Article