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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)  
    ... and Grants 2014 Pentchev Fellowship RFA (study of Niemann-Pick Disease Type C) *NEW* 2014 Schuchman Fellowship RFA (study of ASMD; ... Vibra-Glide Wheelchair Available Car Bed Available Understanding Niemann-Pick Disease Type C and its potential treatments. State-specific resources to ...
  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. 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 ...
  8. 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 ...