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

Gaucher disease (GD) is characterized by a marked phenotypic and genetic diversity. It is caused by the functional deficiency of the lysosomal enzyme β-glucocerebrosidase (GCase), which in most instances results from mutations in the GBA1 gene and over 500 different disease causing mutations have be...

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Detalles Bibliográficos
Autores principales: Dimitriou, Evangelia, Moraitou, Marina, Cozar, Mónica, Serra-Vinardell, Jenny, Vilageliu, Lluïsa, Grinberg, Daniel, Mavridou, Irene, Michelakakis, Helen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284128/
https://www.ncbi.nlm.nih.gov/pubmed/32547927
http://dx.doi.org/10.1016/j.ymgmr.2020.100614

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