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Urine-derived cells: a promising diagnostic tool in Fabry disease patients

Fabry disease is a lysosomal storage disorder resulting from impaired alpha-galactosidase A (α-Gal A) enzyme activity due to mutations in the GLA gene. Currently, powerful diagnostic tools and in vivo research models to study Fabry disease are missing, which is a major obstacle for further improveme...

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Detalles Bibliográficos
Autores principales:	Slaats, Gisela G., Braun, Fabian, Hoehne, Martin, Frech, Laura E., Blomberg, Linda, Benzing, Thomas, Schermer, Bernhard, Rinschen, Markus M., Kurschat, Christine E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056427/ https://www.ncbi.nlm.nih.gov/pubmed/30038331 http://dx.doi.org/10.1038/s41598-018-29240-w

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