Infantile neuronal ceroid lipofuscinosis

Known as: Santavuori Haltia Disease, Santavuori-Haltia Disease, INCL 
A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically… (More)
National Institutes of Health

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Highly Cited
2011
Highly Cited
2011
Infantile neuronal ceroid lipofuscinosis (INCL) is an inherited neurodegenerative disorder affecting the CNS during infancy. INCL… (More)
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Highly Cited
2008
Highly Cited
2008
Late infantile neuronal ceroid lipofuscinosis (LINCL) is an autosomal recessive, neurodegenerative lysosomal storage disease… (More)
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Highly Cited
2007
Highly Cited
2007
Infantile neuronal ceroid lipofuscinosis (INCL) is caused by deficiency of the lysosomal enzyme, palmitoyl protein thioesterase 1… (More)
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2005
2005
Infantile neuronal ceroid lipofuscinosis (INCL) is a neurodegenerative disorder caused by mutations in the gene encoding the… (More)
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Highly Cited
2004
Highly Cited
2004
Infantile neuronal ceroid lipofuscinosis (INCL) is one of a group of fatal hereditary lysosomal storage disorders. Palmitoyl… (More)
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2002
2002
We examined 26 individuals with clinical and electron microscopic signs of late infantile neuronal ceroid lipofuscinosis (LINCL… (More)
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Highly Cited
1999
Highly Cited
1999
Tripeptidyl peptidase I (TPP-I) is a lysosomal enzyme that cleaves tripeptides from the N-terminus of polypeptides. A comparison… (More)
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1999
1999
We report that fragments of amino acid sequence recently described for tripeptidyl-peptidase I (TPP I) show that it is the rat… (More)
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Highly Cited
1998
Highly Cited
1998
The neuronal ceroid lipofuscinoses (NCLs) represent a group of common recessive inherited neurodegenerative disorders of… (More)
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Highly Cited
1995
Highly Cited
1995
NEURONAL ceroid lipofuscinoses (NCL) represent a group of common progressive encephalopathies of children which have a global… (More)
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