CLN1, Enzyme analysis, INCL, Infantile neuronal ceroid lipofuscinosis, Palmitoyl-protein thioesterase, PPT1, Prenatal diagnosis,
Molecular Genetics and Metabolism
Department of Clinical Genetics

van Diggelen, O.P, Keulemans, J.L.M, Winchester, B, Hofman, I.L, Vanhanen, S.L, Santavuori, P, & Voznyi, Y.V. (1999). A rapid fluorogenic palmitoyl-protein thioesterase assay: Pre- and postnatal diagnosis of INCL. In Molecular Genetics and Metabolism (Vol. 66, pp. 240–244). doi:10.1006/mgme.1999.2809