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Prenatal diagnosis of Niemann-Pick disease type C.
de Winter JM, Janse HC, van Diggelen OP, Los FJ, Beemer FA, Kleijer WJ. de Winter JM, et al. Among authors: los fj. Clin Chim Acta. 1992 Jun 30;208(3):173-81. doi: 10.1016/0009-8981(92)90074-z. Clin Chim Acta. 1992. PMID: 1499136
First-trimester diagnosis of Morquio disease type A.
Kleijer WJ, Geilen GC, Garritsen V, Huijmans JG, Los FJ, Voznyi YV, van Diggelen OP. Kleijer WJ, et al. Among authors: los fj. Prenat Diagn. 2000 Mar;20(3):183-5. Prenat Diagn. 2000. PMID: 10719317
First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis.
Kleijer WJ, van Diggelen OP, Keulemans JL, Losekoot M, Garritsen VH, Stroink H, Majoor-Krakauer D, Franken PF, Eurlings MC, Taschner PE, Los FJ, Galjaard RJ. Kleijer WJ, et al. Among authors: los fj. Prenat Diagn. 2001 Feb;21(2):99-101. doi: 10.1002/1097-0223(200102)21:2<99::aid-pd988>3.0.co;2-f. Prenat Diagn. 2001. PMID: 11241534
84 results