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| Title : Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease - van Diggelen_2001_Ann.Neurol_50_269 |
| Author(s) : van Diggelen OP , Thobois S , Tilikete C , Zabot MT , Keulemans JL , van Bunderen PA , Taschner PE , Losekoot M , Voznyi YV |
| Ref : Annals of Neurology , 50 :269 , 2001 |
| Abstract : van Diggelen_2001_Ann.Neurol_50_269 |
| ESTHER : van Diggelen_2001_Ann.Neurol_50_269 |
| PubMedSearch : van Diggelen_2001_Ann.Neurol_50_269 |
| PubMedID: 11506414 |
| Gene_locus related to this paper: human-PPT1 |
| 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 |