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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 ...
- Niemann-Pick disease (NPD) is a group of diseases passed down through families (inherited) in which fatty substances called ... can provide support and more information on Niemann-Pick disease: National Institute of Neurological Disorders and Stroke -- ...
- People with FTD have abnormal substances (called tangles, Pick bodies, Pick cells, and tau proteins) inside nerve cells in ...
- Genetic Brain Disorders (National Library of Medicine)A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
- Neimann-Pick is a disease in which excess material is stored inside cells (metabolic storage disease). These cells are ...
- ... least 33 pounds (15 kg) who have Niemann-Pick disease type C (NPC; an inherited disease in ... treat the neurologic symptoms in patients with Niemann-Pick disease type C.
- ... years of age and older who have Niemann-Pick disease type C (NPC; an inherited disease in ... to treat neurologic symptoms in patients with Niemann-Pick disease type C.
- ... 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) ...