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de Vries BBA, Kleijer WJ, Keulemans JLM, Voznyi YV, Franken PF, Eurlings MCM, Galjaard RJ, Losekoot M, Catsman‐Berrevoets CE, Breuning MH, Taschner PEM, van Diggelen OP. First‐trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. Prenat. Diagn. 1999 Jun;19(6):559–62. doi: 10.1002/(sici)1097-0223(199906)19:6<559::aid-pd587>3.3.co;2-#. |