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A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.
Montioli, Riccardo; Battini, Roberta; Paiardini, Alessandro; Tolve, Manuela; Bertoldi, Mariarita; Carducci, Carla; Leuzzi, Vincenzo; Borri Voltattorni, Carla.
Afiliación
  • Montioli R; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
  • Battini R; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy; IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Paiardini A; Department of Biochemical Sciences "A. Rossi Fanelli", University of Roma "La Sapienza", Roma, Italy.
  • Tolve M; Department of Experimental Medicine, University of Roma "La Sapienza", Roma, Italy; Clinical Pathology Unit, PoliclinicoUmberto 1, Roma, Italy.
  • Bertoldi M; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
  • Carducci C; Department of Experimental Medicine, University of Roma "La Sapienza", Roma, Italy.
  • Leuzzi V; Department of Human Neuroscience, University of Roma "La Sapienza", Roma, Italy. Electronic address: vincenzo.leuzzi@uniroma1.it.
  • Borri Voltattorni C; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy. Electronic address: carla.borrivoltattorni@univr.it.
Mol Genet Metab ; 127(2): 132-137, 2019 06.
Article en En | MEDLINE | ID: mdl-31104889
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Descarboxilasas de Aminoácido-L-Aromático / Errores Innatos del Metabolismo de los Aminoácidos / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2019 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Descarboxilasas de Aminoácido-L-Aromático / Errores Innatos del Metabolismo de los Aminoácidos / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2019 Tipo del documento: Article País de afiliación: Italia