Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

Lysosomal diseases (LD) are a group of about 70 rare hereditary disorders (combined incidence 1:5000) in which diverse lysosomal functions are impaired, impacting multiple organs and systems. The first clinical signs and symptoms are usually unspecific and shared by hundreds of other disorders. Diag...

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Detalles Bibliográficos
Autores principales: Muñoz, Gloria, García‐Seisdedos, David, Ciubotariu, Crina, Piris‐Villaespesa, Miguel, Gandía, Marta, Martín‐Moro, Fernando, Gutiérrez‐Solana, Luis G., Morado, Marta, López‐Jiménez, Javier, Sánchez‐Herranz, Antonio, Villarrubia, Jesús, del Castillo, Francisco J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012743/
https://www.ncbi.nlm.nih.gov/pubmed/32071839
http://dx.doi.org/10.1002/jmd2.12078

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