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The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency.
Montioli, Riccardo; Paiardini, Alessandro; Kurian, Manju A; Dindo, Mirco; Rossignoli, Giada; Heales, Simon J R; Pope, Simon; Voltattorni, Carla Borri; Bertoldi, Mariarita.
Afiliación
  • Montioli R; Department of Neurosciences, Biomedicine and Movement, University of Verona, Verona, Italy.
  • Paiardini A; Department of Biology and Biotechnology "Charles Darwin", La Sapienza University of Roma, Roma, Italy.
  • Kurian MA; Developmental Neurosciences, UCL-Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital, London, UK.
  • Dindo M; Department of Neurosciences, Biomedicine and Movement, University of Verona, Verona, Italy.
  • Rossignoli G; Department of Neurosciences, Biomedicine and Movement, University of Verona, Verona, Italy.
  • Heales SJR; Clinical Chemistry, Great Ormond Street Hospital, London, UK; Neurometabolic Unit, National Hospital of Neurology and Neurosurgery, UK.
  • Pope S; Neurometabolic Unit, National Hospital of Neurology and Neurosurgery, UK.
  • Voltattorni CB; Department of Neurosciences, Biomedicine and Movement, University of Verona, Verona, Italy.
  • Bertoldi M; Department of Neurosciences, Biomedicine and Movement, University of Verona, Verona, Italy. Electronic address: mita.bertoldi@univr.it.
Biochim Biophys Acta ; 1864(6): 676-682, 2016 Jun.
Article en En | MEDLINE | ID: mdl-26994895
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Descarboxilasas de Aminoácido-L-Aromático / Mutación Tipo de estudio: Prognostic_studies Idioma: En Revista: Biochim Biophys Acta Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Descarboxilasas de Aminoácido-L-Aromático / Mutación Tipo de estudio: Prognostic_studies Idioma: En Revista: Biochim Biophys Acta Año: 2016 Tipo del documento: Article