Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

For years, the gold standard for diagnosing Gaucher disease (GD) has been detecting reduced β-glucocerebrosidase (GCase) activity in peripheral blood cells combined with GBA1 mutation analysis. The use of dried blood spot (DBS) specimens offers many advantages, including easy collection, the need fo...

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Detalles Bibliográficos
Autores principales: Dinur, Tama, Bauer, Peter, Beetz, Christian, Kramp, Guido, Cozma, Claudia, Iurașcu, Marius-Ionuț, Becker-Cohen, Michal, Istaiti, Majdolen, Rolfs, Arndt, Zimran, Ari, Revel-Vilk, Shoshana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8835963/
https://www.ncbi.nlm.nih.gov/pubmed/35163551
http://dx.doi.org/10.3390/ijms23031627

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8835963/
https://www.ncbi.nlm.nih.gov/pubmed/35163551
http://dx.doi.org/10.3390/ijms23031627

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