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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)  
    ... survive into adulthood. The signs and symptoms of Niemann-Pick disease types C1 and C2 are very similar; these types differ only in their genetic cause. Niemann-Pick disease types C1 and C2 usually become apparent in childhood, although ...
  2. National Niemann-Pick Disease Foundation (National Niemann-Pick Disease Foundation)  
    ... News & Updates BREAKING NEWS NIH Cyclodextrin Trial For Niemann-Pick Disease Type C ~ Pediatrics ~ UPDATE ~ Dateline: 01/07/2015 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 . A current NIH study is testing ...
  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 ...