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 : |
PubMedSearch : van Diggelen_2001_Ann.Neurol_50_269 |
PubMedID: 11506414 |
Gene_locus related to this paper: human-PPT1 |