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
(Springer Berlin, 2020-07)
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, ...