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In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy.
Ciana, Giovanni; Dardis, Andrea; Pavan, Eleonora; Da Riol, Rosalia Maria; Biasizzo, Jessica; Ferino, Dania; Zanatta, Manuela; Boni, Antonella; Antonini, Luisa; Crichiutti, Giovanni; Bembi, Bruno.
Afiliación
  • Ciana G; Pediatric Department, Hospital of Merano, Merano, Italy.
  • Dardis A; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.
  • Pavan E; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.
  • Da Riol RM; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.
  • Biasizzo J; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.
  • Ferino D; Institute of Clinical Pathology, University Hospital of Udine, ASUFC, Udine, Italy.
  • Zanatta M; Institute of Clinical Pathology, University Hospital of Udine, ASUFC, Udine, Italy.
  • Boni A; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.
  • Antonini L; U.O. di Neuropsichiatria Infantile, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Crichiutti G; UO di Neurofisiopatologia, Spedali Civili di Brescia, Brescia, Italy.
  • Bembi B; Pediatric Department, University Hospital of Udine, Udine, Italy.
Mol Genet Metab Rep ; 25: 100678, 2020 Dec.
Article en En | MEDLINE | ID: mdl-33294373
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2020 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2020 Tipo del documento: Article País de afiliación: Italia