Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity

BACKGROUND: The CLN3 disease spectrum ranges from a childhood‐onset neurodegenerative disorder to a retina‐only disease. Given the lack of metabolic disease severity markers, it may be difficult to provide adequate counseling, particularly when novel genetic variants are identified. In this study, w...

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Detalles Bibliográficos
Autores principales: Kuper, Willemijn F. E., Oostendorp, Marlies, van den Broek, Brigitte T. A., van Veghel, Karin, Nonkes, Lourens J. P., Nieuwenhuis, Edward E. S., Fuchs, Sabine A., Veenendaal, Tineke, Klumperman, Judith, Huisman, Albert, Nierkens, Stefan, van Hasselt, Peter M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358670/
https://www.ncbi.nlm.nih.gov/pubmed/32685355
http://dx.doi.org/10.1002/jmd2.12128

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