Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity.

Willemijn F E KuperMarlies OostendorpBrigitte T A van den BroekKarin van VeghelLourens J P NonkesEdward E S NieuwenhuisSabine A FuchsTineke VeenendaalJudith KlumpermanAlbert HuismanStefan NierkensPeter M van Hasselt

Published in: JIMD reports (2020)

Lymphocyte vacuolization serves as a proxy for CLN3 disease severity. Quantifying vacuolization may help interpretation of novel genetic variants and provide an individualized readout for upcoming therapies.

Keyphrases

peripheral blood