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98 results
  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: 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 ...
  3. 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 ...
  4. Bone Marrow or Blood Stem Cell Transplants in Children With Certain Rare Inherited Metabolic Diseases - Comparative ... 
    https://www.ncbi.nlm.nih.gov/books/NBK169011
    ... 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. 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- ...
  6. 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 ...
  7. 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 ...
  8. Lysosomal Acid Lipase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK305870
    ... 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. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 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. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Niemann-Pick disease</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
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