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  1. Niemann-Pick disease 
    https://medlineplus.gov/ency/article/001207.htm
    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. Niemann-Pick Disease Type C - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1296
    ... Search term GeneReviews Advanced Search Help < Prev Next > Niemann-Pick Disease Type C Marc Patterson , MD. Author Information and ... Ara Parseghian Medical Research Foundation parseghian.org International Niemann–Pick Disease Alliance (INPDA) Phone: 44 (0)191 4150693 Email: ...
  3. Niemann-Pick disease: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/niemann-pick-disease
    ... C2. Learn more about the genes associated with Niemann-Pick disease NPC1 NPC2 SMPD1 Inheritance This condition is inherited ...
  4. Genetic Brain Disorders 
    https://medlineplus.gov/geneticbraindisorders.html
    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 ...
  5. MedlinePlus Drug Information: Arimoclomol 
    https://medlineplus.gov/druginfo/meds/a624065.html
    ... 2 years of age and older who have Niemann-Pick disease type C (NPC; an inherited disease in which ... works to treat neurologic symptoms in patients with Niemann-Pick disease type C.
  6. MedlinePlus Drug Information: Levacetylleucine 
    https://medlineplus.gov/druginfo/meds/a624063.html
    ... at least 33 pounds (15 kg) who have Niemann-Pick disease type C (NPC; an inherited disease in which ... to treat the neurologic symptoms in patients with Niemann-Pick disease type C.
  7. SMPD1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/smpd1
    ... 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- ...
  8. NPC2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/npc2
    ... 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 ...
  9. NPC1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/npc1
    ... 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 ...
  10. Acid Sphingomyelinase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1370
    ... criteria, click here . MedlinePlus Niemann-Pick disease National Niemann-Pick Disease Foundation (NNPDF) Phone: 877-287-3672 Email: nnpdf@ ... jewishgenetics@juf.org www.juf.org/cjg International Niemann–Pick Disease Alliance (INPDA) Phone: 44 (0)191 4150693 Email: ...
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