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| Title : Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency - Kalviainen_2007_Eur.J.Neurol_14_369 |
| Author(s) : Kalviainen R , Eriksson K , Losekoot M , Sorri I , Harvima I , Santavuori P , Jarvela I , Autti T , Vanninen R , Salmenpera T , van Diggelen OP |
| Ref : Eur Journal of Neurology , 14 :369 , 2007 |
| Abstract : Kalviainen_2007_Eur.J.Neurol_14_369 |
| ESTHER : Kalviainen_2007_Eur.J.Neurol_14_369 |
| PubMedSearch : Kalviainen_2007_Eur.J.Neurol_14_369 |
| PubMedID: 17388982 |
| Gene_locus related to this paper: human-PPT1 |
| Title : [From gene to disease\; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis] - Taschner_2005_Ned.Tijdschr.Geneeskd_149_300 |
| Author(s) : Taschner PE , Losekoot M , Breuning MH , Hofman I , van Diggelen OP |
| Ref : Ned Tijdschr Geneeskd , 149 :300 , 2005 |
| Abstract : Taschner_2005_Ned.Tijdschr.Geneeskd_149_300 |
| ESTHER : Taschner_2005_Ned.Tijdschr.Geneeskd_149_300 |
| PubMedSearch : Taschner_2005_Ned.Tijdschr.Geneeskd_149_300 |
| PubMedID: 15730038 |
| Gene_locus related to this paper: human-PPT1 |
| Title : New mutations in the neuronal ceroid lipofuscinosis genes - Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| Author(s) : Mole SE , Zhong NA , Sarpong A , Logan WP , Hofmann S , Yi W , Franken PF , van Diggelen OP , Breuning MH , Moroziewicz D , Ju W , Salonen T , Holmberg V , Jarvela I , Taschner PE |
| Ref : Eur J Paediatr Neurol , 5 Suppl A :7 , 2001 |
| Abstract : Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| ESTHER : Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| PubMedSearch : Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| PubMedID: 11589012 |
| Gene_locus related to this paper: human-PPT1 |
| 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 |
| Title : Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease - Lohse_1999_J.Lipid.Res_40_221 |
| Author(s) : Lohse P , Maas S , Sewell AC , van Diggelen OP , Seidel D |
| Ref : J Lipid Res , 40 :221 , 1999 |
| Abstract : Lohse_1999_J.Lipid.Res_40_221 |
| ESTHER : Lohse_1999_J.Lipid.Res_40_221 |
| PubMedSearch : Lohse_1999_J.Lipid.Res_40_221 |
| PubMedID: 9925650 |
| Gene_locus related to this paper: human-LIPA |
| 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 |