| Title : First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis - de Vries_1999_Prenat.Diagn_19_559 |
| Author(s) : de Vries BB , Kleijer WJ , Keulemans JL , Voznyi YV , Franken PF , Eurlings MC , Galjaard RJ , Losekoot M , Catsman-Berrevoets CE , Breuning MH , Taschner PE , van Diggelen OP |
| Ref : Prenat Diagn , 19 :559 , 1999 |
| Abstract : de Vries_1999_Prenat.Diagn_19_559 |
| ESTHER : de Vries_1999_Prenat.Diagn_19_559 |
| PubMedSearch : de Vries_1999_Prenat.Diagn_19_559 |
| PubMedID: 10416973 |
| Gene_locus related to this paper: human-PPT1 |
| Gene_locus related to this paper: human-PPT1 |
de Vries BB, Kleijer WJ, Keulemans JL, Voznyi YV, Franken PF, Eurlings MC, Galjaard RJ, Losekoot M, Catsman-Berrevoets CE, Breuning MH, Taschner PE, van Diggelen OP (1999)
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis
Prenat Diagn
19 :559
de Vries BB, Kleijer WJ, Keulemans JL, Voznyi YV, Franken PF, Eurlings MC, Galjaard RJ, Losekoot M, Catsman-Berrevoets CE, Breuning MH, Taschner PE, van Diggelen OP (1999)
Prenat Diagn
19 :559