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Bone disease in early detected Gaucher Type I disease: A case report

Gaucher disease (GD) is a lysosomal disorder characterized by the storage of glucosylceramide in macrophages (“Gaucher cells”), particularly in the spleen, liver, and bone marrow. The most common phenotype, GD type 1, usually presents with hepatosplenomegaly, cytopenias, and sometimes bone involveme...

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Detalles Bibliográficos
Autores principales: Gragnaniello, Vincenza, Burlina, Alessandro P., Manara, Renzo, Cazzorla, Chiara, Rubert, Laura, Gueraldi, Daniela, Toniolli, Ermanno, Quaia, Emilio, Burlina, Alberto B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458614/
https://www.ncbi.nlm.nih.gov/pubmed/36101816
http://dx.doi.org/10.1002/jmd2.12314