Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

Dimitriou, Evangelia; Moraitou, Marina; Cozar, Mónica; Serra-Vinardell, Jenny; Vilageliu, Lluïsa; Grinberg, Daniel; Mavridou, Irene; Michelakakis, Helen

Dimitriou, Evangelia; Moraitou, Marina; Cozar, Mónica; Serra-Vinardell, Jenny; Vilageliu, Lluïsa; Grinberg, Daniel; Mavridou, Irene; Michelakakis, Helen.

Afiliación

Dimitriou E; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
Moraitou M; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
Cozar M; Department de Genètica, Microbiologia i Estadistica, Universitat de Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain.
Serra-Vinardell J; Department de Genètica, Microbiologia i Estadistica, Universitat de Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain.
Vilageliu L; Department de Genètica, Microbiologia i Estadistica, Universitat de Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain.
Grinberg D; Department de Genètica, Microbiologia i Estadistica, Universitat de Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain.
Mavridou I; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
Michelakakis H; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.

Mol Genet Metab Rep ; 24: 100614, 2020 Sep.

Article en En | MEDLINE | ID: mdl-32547927

Palabras clave

GBA; GBA1, Glucocerebrosidase gene; GCase, ß-Glucocerebrosidase; GD; GD, Gaucher disease; Gaucher disease; Glucocerebrosidase; Greek; Mutation analysis

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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2020 Tipo del documento: Article País de afiliación: Grecia

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