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Results 1 - 8 of 8 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. National Niemann-Pick Disease Foundation (National Niemann-Pick Disease Foundation)  
    ... Clinical Trials: News & Updates NIH Cyclodextrin Trial For Niemann-Pick Disease Type C ~ Pediatrics ~ UPDATE ~ Dateline: 6/ 27/2014 We received ... Orphazyme ApS of an upcoming clinical trial for Niemann-Pick Disease Type C. Orphazyme ApS (Copenhagen, Denmark) develops new therapies for ...
  3. ... al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab . 2009;98:152-165.
  4. ... significant potential for cystic fibrosis, sickle cell anemia, Niemann-Pick Disease Type C, and Fragile X syndrome. What does the research ...
  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. 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 ...
  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 ...
  8. 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 ...