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- Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into ...
- ... NPC2 gene have been found to cause Niemann-Pick disease type C2. This type of Niemann-Pick disease is characterized by a buildup of fat ... problems. The NPC2 gene mutations that cause Niemann-Pick disease type C2 reduce or eliminate NPC2 protein ...
- ... NPC1 gene have been found to cause Niemann-Pick disease type C1. This type of Niemann-Pick disease is characterized by a buildup of fat ... the tissue and organ damage seen in Niemann-Pick disease type C1. More About This Health Condition ...
- The MAPT gene provides instructions for making a protein called tau. This protein is found throughout the nervous system, including in nerve cells (neurons) ...
- ... SMPD1 gene have been found to cause Niemann-Pick disease types A and B. These types of Niemann-Pick disease are characterized by a buildup of fat ... loss of enzyme function tend to cause Niemann-Pick disease type A. In the Ashkenazi (eastern and ...
- ... surface of many types of cells, where they pick up LDLs circulating in the bloodstream and transport ... are recycled back to the cell surface to pick up more LDLs.Low-density lipoprotein receptors play ...
- ... also called neuronal ceroid lipofuscinosis ( PPT1 -related) Niemann-Pick disease Nijmegen breakage syndrome Nonsyndromic hearing loss Pendred ...
- ... that are described as metachromatic, which means they pick up color differently than surrounding cellular material when ...
- ... disorder. DDPAC Disinhibition-dementia-parkinsonism-amytrophy complex Familial Pick's disease FTDP-17 Wilhelmsen-Lynch disease Genetic ...
- ... blood flow into the lungs, where blood normally picks up oxygen for distribution to cells and tissues ...