Niemann-Pick Disease, Type B

Common Name(s)

Niemann-Pick Disease, Type B

Niemann-Pick disease type B is an inherited condition involving lipid metabolism. People with this condition experience a build up of lipids in the spleen, liver, lungs, bone marrow, and brain. Signs and symptoms may include enlarged liver and spleen, growth retardation, and problems with lung function including frequent lung infections. Other signs include blood abnormalities such as elevated levels of cholesterol and other lipids (fats), and decreased numbers of blood cells involved in clotting (platelets). It is caused by changes (mutations) in the SMPD1 gene. It is inherited in an autosomal recessive fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Niemann-Pick Disease, Type B" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease, Type C1

 

Last Updated: 28 Oct 2014

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