Associated Papers
[Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis].
Bi HY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2006
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.
Das AK et al.
Human Molecular Genetics, 2001
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.
Waliany S et al.
Human Mutation, 2000
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).
Salonen T et al.
Human Mutation, 2000
The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases.
Bennett MJ et al.
Journal of Inherited Metabolic Disease, 1999
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
Das AK et al.
The Journal of Clinical Investigation, 1998
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
Mitchison HM et al.
Human Molecular Genetics, 1998
Select a paper to view details