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99 results
  1. NPD; Sphingomyelinase deficiency; Lipid storage disorder - Niemann-Pick disease; Lysosomal storage disease - Niemann-Pick ... organizations can provide support and more information on Niemann-Pick disease: National Institute of Neurological Disorders and Stroke -- www. ...
  2. ... C2. Learn more about the genes associated with Niemann-Pick disease NPC1 NPC2 SMPD1 Inheritance This condition is inherited ...
  3. Genetic brain disorders affect the development and function of the brain. Some are inherited, some are caused by exposure, and others are both. ... A genetic ...
  4. ... Swelling of the liver and spleen Mental disability Niemann-Pick Disease Type A Niemann-Pick disease type A appears ... swollen joints more than usual treatment * 5 patients Niemann-Pick disease type A Did not appear to increase the ...
  5. ... and tissues. Health Conditions Related to Genetic Changes Niemann-Pick disease At least 175 mutations in the SMPD1 gene have been found to cause Niemann-Pick disease types A and B. These types of Niemann- ...
  6. ... the cell. Health Conditions Related to Genetic Changes Niemann-Pick disease More than 20 mutations in the NPC2 gene have been found to cause Niemann-Pick disease type C2. This type of Niemann-Pick disease ...
  7. ... cell membranes. Health Conditions Related to Genetic Changes Niemann-Pick disease More than 380 mutations in the NPC1 gene have been found to cause Niemann-Pick disease type C1. This type of Niemann-Pick disease ...
  8. ... mutation of LIPA. Differential Diagnosis Acid sphingomyelinase deficiency (Niemann-Pick disease, types A and B). Overlapping clinical features of lysosomal acid lipase (LAL) deficiency and Niemann-Pick disease types A and B are hepatosplenomegaly, which is ...
  9. ... C10.228.140.163.100.435.825.700 Niemann-Pick Diseases C10.228.140.163.100.435.825.700.500 Niemann-Pick Disease, Type A C10.228.140.163.100.435.825.700.750 Niemann-Pick Disease, Type B C10.228.140.163.100.435. ...
  10. ... published></health-condition-summary><health-condition-summary ><name >Niemann-Pick disease</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
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