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

Majer, Filip; Asfaw, Befekadu; Kuchar, Ladislav; Musálková, Dita; Steiner-Mrázová, Lenka; Dobrovolný, Robert; Ledvinová, Jana; Hrebícek, Martin.

Afiliação

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 em En | MEDLINE | ID: mdl-35088900

Assuntos

Doença de Niemann-Pick Tipo C; Adolescente; Técnicas de Cultura de Células; Colesterol/metabolismo; Dextranos/metabolismo; Células HEK293; Humanos; Proteína C1 de Niemann-Pick/genética; Doença de Niemann-Pick Tipo C/diagnóstico; Doença de Niemann-Pick Tipo C/genética; Doença de Niemann-Pick Tipo C/metabolismo; Espectrometria de Massas em Tandem

Palavras-chave

Niemann-Pick type C disease; cholesterol; cholesterol trafficking; cholesterol-dextran particles; cholesteryl ester; loading test

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Niemann-Pick Tipo C Tipo de estudo: Diagnostic_studies Limite: Adolescent / Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2022 Tipo de documento: Article País de afiliação: República Tcheca

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google