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Results 1 - 7 of 7 for "Niemann-Pick" disease type C1
  1. Genetics Home Reference: Niemann-Pick disease From the National Institutes of Health (National Library of Medicine)  
    ... people have mutations in the gene associated with Niemann-Pick disease type C1. What genes are related to Niemann-Pick disease? ... lipids within cells as seen in people with Niemann-Pick disease type C1. The NPC2 gene provides instructions to produce a ...
  2. ... significant potential for cystic fibrosis, sickle cell anemia, Niemann-Pick Disease Type C, and Fragile X syndrome. What does the research ...
  3. Rare Diseases Clinical Research Network (Rare Diseases Clinical Research Network)  
    ... Consortium Smith-Lemli-Opitz Syndrome Sjögren-Larsson Syndrome Niemann-Pick Disease Type C Mevalonate Kinase Deficiency Mevalonic Aciduria Hyperimmunoglobulinemia D with ...
  4. ... al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab . 2009;98:152-165.
  5. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... develop in the teen or even adult years. Niemann-Pick disease types C and D are not caused by a deficiency ...
  6. Sitosterolemia From the National Institutes of Health (Rare Diseases Clinical Research Network)  
    ... Diseases: Smith-Lemli-Opitz Syndrome Sjögren-Larsson Syndrome Niemann-Pick Disease Type C Mevalonate Kinase Deficiency Hyperimmunoglobulinemia D Syndrome (HIDS) Mevalonic ...
  7. Niemann-Pick Disease From the National Institutes of Health (National Institute of Neurological Disorders and Stroke) - Short Summary  
    ... two different genes that, when defective, contribute to Niemann-Pick disease types C and D . NIH Patient Recruitment for Niemann-Pick ...