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Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease.
Majer, Filip; Asfaw, Befekadu; Kuchar, Ladislav; Musálková, Dita; Steiner-Mrázová, Lenka; Dobrovolný, Robert; Ledvinová, Jana; Hrebícek, Martin.
Afiliación
  • Majer F; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Asfaw B; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Kuchar L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Musálková D; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Steiner-Mrázová L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Dobrovolný R; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Ledvinová J; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Hrebícek M; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
J Inherit Metab Dis ; 45(3): 584-592, 2022 05.
Article en En | MEDLINE | ID: mdl-35088900
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Niemann-Pick Tipo C Tipo de estudio: Diagnostic_studies Límite: Adolescent / Humans Idioma: En Revista: J Inherit Metab Dis Año: 2022 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Niemann-Pick Tipo C Tipo de estudio: Diagnostic_studies Límite: Adolescent / Humans Idioma: En Revista: J Inherit Metab Dis Año: 2022 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Estados Unidos