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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… Expand
National Institutes of Health

Papers overview

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Highly Cited
2008
Highly Cited
2008
Late infantile neuronal ceroid lipofuscinosis (LINCL) is an autosomal recessive, neurodegenerative lysosomal storage disease… Expand
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Highly Cited
2006
Highly Cited
2006
Part One: Fundamentals 1. Fundamentals Part Two: Laboratory Practical 2. Practical Electrochemical Cells 3. Solvents and… Expand
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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… Expand
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Highly Cited
2003
Highly Cited
2003
New correlation consistent-like basis sets have been developed for the post-d group 13–15 elements (Ga–As, In–Sb, Tl–Bi… Expand
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Highly Cited
2002
Highly Cited
2002
The CLN6 gene that causes variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a recessively inherited… Expand
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Highly Cited
2002
Highly Cited
2002
The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases characterized by the… Expand
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Highly Cited
2001
Highly Cited
2001
PPT1 and PPT2 encode two lysosomal thioesterases that catalyze the hydrolysis of long chain fatty acyl CoAs. In addition to this… Expand
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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… Expand
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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… Expand
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Highly Cited
1991
Highly Cited
1991
A cDNA library prepared from a human glioblastoma cell line has been introduced into a budding yeast strain that lacks CLN1 and… Expand
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