Skip to search formSkip to main contentSkip to account menu
You are currently offline. Some features of the site may not work correctly.
palmitoyl-protein hydrolase
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2007
2007
Accurate diagnosis, especially in progressive hereditary diseases, is essential for the treatment and genetic counseling of the… Expand
2005
2005
SummaryMajor advances in the molecular genetic analysis of the neuronal ceroid lipofuscinoses (NCL) have recently been made: the… Expand
Highly Cited
2001
Highly Cited
2001
A deficiency of palmitoyl protein thioesterase (PPT) leads to the neurodegenerative disease infantile neuronal ceroid… Expand
Highly Cited
2000
Highly Cited
2000
Infantile neuronal ceroid lipofuscinosis (INCL) is a severe neurodegenerative disorder in childhood that is caused by mutations… Expand
2000
2000
The infantile form of neuronal ceroid lipofuscinosis (INCL; CLN1) is the earliest onset form of the neuronal ceroid… Expand
Highly Cited
1999
Highly Cited
1999
Deficiency in palmitoyl protein thioesterase (PPT) results in the rapid death of neocortical neurons in human. Very little is… Expand
Review
1999
Review
1999
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterised by the accumulation… Expand
1998
1998
Abstract: Infantile neuronal ceroid lipofuscinosis (INCL) is a neurodegenerative lysosomal storage disease that results from a… Expand
1996
1996
The marine natural product didemnin B, currently in clinical trials as an antitumor agent, has several potent biological… Expand