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Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.
Lassuthová, P; Mazanec, R; Stanek, D; Sedlácková, L; Plevová, B; Haberlová, J; Seeman, P.
Afiliación
  • Lassuthová P; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine (2. LF UK) and University Hospital Motol, Prague, Czech Republic. petra.lassuthova@fnmotol.cz.
  • Mazanec R; Department of Neurology, Second Faculty of Medicine (2. LF UK) and University Hospital Motol, Prague, Czech Republic.
  • Stanek D; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine (2. LF UK) and University Hospital Motol, Prague, Czech Republic.
  • Sedlácková L; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine (2. LF UK) and University Hospital Motol, Prague, Czech Republic.
  • Plevová B; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine (2. LF UK) and University Hospital Motol, Prague, Czech Republic.
  • Haberlová J; Department of Paediatric Neurology, Second Faculty of Medicine (2. LF UK) and University Hospital Motol, Prague, Czech Republic.
  • Seeman P; Department of Paediatric Neurology, Second Faculty of Medicine (2. LF UK) and University Hospital Motol, Prague, Czech Republic.
Sci Rep ; 11(1): 8443, 2021 04 19.
Article en En | MEDLINE | ID: mdl-33875678
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neuropatía Hereditaria Motora y Sensorial / L-Iditol 2-Deshidrogenasa Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Sci Rep Año: 2021 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neuropatía Hereditaria Motora y Sensorial / L-Iditol 2-Deshidrogenasa Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Sci Rep Año: 2021 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Reino Unido