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Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
Ortigoza-Escobar, Juan Darío; Molero-Luis, Marta; Arias, Angela; Oyarzabal, Alfonso; Darín, Niklas; Serrano, Mercedes; Garcia-Cazorla, Angels; Tondo, Mireia; Hernández, María; Garcia-Villoria, Judit; Casado, Mercedes; Gort, Laura; Mayr, Johannes A; Rodríguez-Pombo, Pilar; Ribes, Antonia; Artuch, Rafael; Pérez-Dueñas, Belén.
Afiliación
  • Ortigoza-Escobar JD; 1 Department of Child Neurology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Molero-Luis M; 2 Department of Clinical Biochemistry, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Arias A; 3 Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic, Barcelona, Spain 4 Centre for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain.
  • Oyarzabal A; 5 Department of Molecular Biology, Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Centro de Biología Molecular Severo Ochoa CSIC-UAM, IDIPAZ, Universidad Autónoma de Madrid, Madrid, Spain.
  • Darín N; 6 Department of Paediatrics, Sahlgrenska Academy, Gothenburg University, Gothenburg Sweden.
  • Serrano M; 1 Department of Child Neurology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain 4 Centre for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain.
  • Garcia-Cazorla A; 1 Department of Child Neurology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain 4 Centre for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain.
  • Tondo M; 2 Department of Clinical Biochemistry, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Hernández M; 2 Department of Clinical Biochemistry, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Garcia-Villoria J; 3 Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic, Barcelona, Spain 4 Centre for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain.
  • Casado M; 2 Department of Clinical Biochemistry, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain 4 Centre for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain.
  • Gort L; 3 Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic, Barcelona, Spain 4 Centre for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain.
  • Mayr JA; 7 Department of Paediatrics, Paracelsus Medical University Salzburg, Salzburg 5020, Austria.
  • Rodríguez-Pombo P; 4 Centre for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain 5 Department of Molecular Biology, Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Centro de Biología Molecular Severo Ochoa CSIC-UAM, IDIPAZ, Universidad Autónoma de Madrid, Madrid, Spain.
  • Ribes A; 3 Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic, Barcelona, Spain 4 Centre for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain.
  • Artuch R; 2 Department of Clinical Biochemistry, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain 4 Centre for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain.
  • Pérez-Dueñas B; 1 Department of Child Neurology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain 4 Centre for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain bperez@hsjdbcn.org.
Brain ; 139(Pt 1): 31-8, 2016 Jan.
Article en En | MEDLINE | ID: mdl-26657515
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Tiamina / Enfermedad de Leigh Tipo de estudio: Observational_studies / Screening_studies Idioma: En Revista: Brain Año: 2016 Tipo del documento: Article País de afiliación: España
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Tiamina / Enfermedad de Leigh Tipo de estudio: Observational_studies / Screening_studies Idioma: En Revista: Brain Año: 2016 Tipo del documento: Article País de afiliación: España