Full name :
First name :
Mail :
Zip Code :
City :
Country :
Email :
Phone :
Fax :
Website :
Directory :
| 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 : 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 |