Results 1 - 10 of 19 for "Niemann-Pick" "disease," type B
  1. Genetics Home Reference: Niemann-Pick disease From the National Institutes of Health (National Library of Medicine)  
    ... A generally do not survive past early childhood. Niemann-Pick disease type B usually presents in mid-childhood. The signs and ... type A, but not as severe. People with Niemann-Pick disease type B often have hepatosplenomegaly, recurrent lung infections, and a ...
  2. Genetic Disease Foundation (Genetic Disease Foundation)  
    ... A143T Mutation Advancements Continue in Development of Potential Niemann-Pick Disease Type B Therapy Phase Ib results presented at scientific meeting
  3. Niemann-Pick disease types A and B occur when cells in the body do not have an enzyme called acid sphingomyelinase (ASM). This ... Guidelines Working Group, Wraith JE, Baumgartner MR, Bembi B, et ... Niemann-Pick disease type C. Mol Genet Metab . 2009;98:152-165.
  4. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... that is altered in patients with Gaucher disease, type A and B D Niemann-Pick disease. In the year 2000, scientists discovered a second gene that is mutated in a minority of patients with type C Niemann-Pick disease, and in Fabry disease. ...
  5. Rare Diseases Clinical Research Network (Rare Diseases Clinical Research Network)  
    ... Morquio syndrome Mucolipidosis Type IV Mucopolysaccharidoses (MPS) Mucopolysaccharidosis ... B Sanfilippo syndrome C Sanfilippo syndrome D Scheie syndrome ...
  6. Niemann-Pick Disease From the National Institutes of Health (National Institute of Neurological Disorders and Stroke) - Short Summary  
    ... any treatment? There is currently no cure for Niemann-Pick ... with type B , and encouraging results have been reported. The development ...
  7. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke) - Short Summary  
    ... P.O. Box 49 401 Madison Avenue, Suite B Ft. Atkinson, WI 53538 nnpdf@nnpdf.org http://www.nnpdf.org Tel: 920-563-0930 877-CURE-NPC (287-3672) Fax: 920-563-0931 Ara Parseghian Medical Research Foundation [For Niemann-Pick Type C Disease] 3530 East Campo Abierto Suite 105 Tucson, AZ ...
  8. What Is Batten Disease (Batten Disease Support and Research Association)  
    ... recognize two main types – called type A and type B. Unlike the childhood NCLs, vision is not affected ... ataxia and slow cognitive deterioration over many years. Type B usually presents with an early dementia or evolving ...
  9. ... mutations cause type A, MOCS2 gene mutations cause type B, and GPHN gene mutations cause type C. The proteins produced from each of these ...
  10. ... survive only into early childhood. Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become ...
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