storage disease

Known as: diseases storage, thesaurosis 
 
National Institutes of Health

Papers overview

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2010
2010
Liver steatosis is a frequent histological feature in patients chronically infected with hepatitis C virus (HCV). The… (More)
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Review
2004
Review
2004
Myoclonus presents as a sudden brief jerk caused by involuntary muscle activity. An organisational framework is crucial for… (More)
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Review
1997
Review
1997
A wide variety of inherited lysosomal hydrolase deficiencies have been reported in animals and are characterized by accumulation… (More)
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1994
1994
In 10 adult patients (5 females and 5 males, aged 13-57 years) with Gitelman's syndrome (GS, or hypocalciuric variant of Bartter… (More)
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1990
1990
The molecular diagnosis of Gaucher disease has been difficult due to the existence of several different point mutations in the… (More)
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1987
1987
The clinical, pigmentary, and ceroid storage manifestations of the Hermansky-Pudlak syndrome (HPS) triad of albinism, hemorrhagic… (More)
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Review
1983
Review
1983
Lysosomal enzymes are distributed widely in various ocular tissues. Among these tissues, the uvea and retina show the higher… (More)
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1981
1981
Therapeutic administration of amiodarone, an antiarrhythmic drug, to eight patients resulted in the formation of vortex-like… (More)
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