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Paper Report for: van Diggelen_2001_Ann.Neurol_50_269

Reference

Title: Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease
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 : PubMed

        



Related information

Gene_Locus| human-PPT1
Mutation | R151X_human-PPT1, G108R_human-PPT1,



Citations formats

van Diggelen OP, Thobois S, Tilikete C, Zabot MT, Keulemans JL, van Bunderen PA, Taschner PE, Losekoot M, Voznyi YV (2001)
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease
Annals of Neurology 50: 269-72

van Diggelen OP, Thobois S, Tilikete C, Zabot MT, Keulemans JL, van Bunderen PA, Taschner PE, Losekoot M, Voznyi YV (2001)
Annals of Neurology 50: 269-72



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