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| 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 |
| Title : A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants - Voznyi_1999_J.Med.Genet_36_471 |
| Author(s) : Voznyi YV , Keulemans JL , Mancini GM , Catsman-Berrevoets CE , Young E , Winchester B , Kleijer WJ , van Diggelen OP |
| Ref : Journal of Medical Genetics , 36 :471 , 1999 |
| Abstract : Voznyi_1999_J.Med.Genet_36_471 |
| ESTHER : Voznyi_1999_J.Med.Genet_36_471 |
| PubMedSearch : Voznyi_1999_J.Med.Genet_36_471 |
| PubMedID: 10874636 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families - Kleijer_1996_Pediatr.Res_39_1067 |
| Author(s) : Kleijer WJ , Geilen GC , Janse HC , van Diggelen OP , Zhou XY , Galjart NJ , Galjaard H , d'Azzo A |
| Ref : Pediatr Res , 39 :1067 , 1996 |
| Abstract : Kleijer_1996_Pediatr.Res_39_1067 |
| ESTHER : Kleijer_1996_Pediatr.Res_39_1067 |
| PubMedSearch : Kleijer_1996_Pediatr.Res_39_1067 |
| PubMedID: 8725271 |
| Gene_locus related to this paper: human-CTSA |