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Results 1 - 10 of 78 for "Niemann-Pick" "disease," type A
  1. National Niemann-Pick Disease Foundation (National Niemann-Pick Disease Foundation)  
    ... for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B). For the Updates Orphazyme Clinical Trial ... 2014* 2014 Schuchman Fellowship RFA (study of ASMD; Types A & B Niemann-Pick Disease) NNPDF-Funded Research *October 2014* Update on the ...
  2. ... Swelling of the liver and spleen Mental disability Niemann-Pick Disease Type A Niemann-Pick disease type A appears in the first months after birth. It ...
  3. Genetics Home Reference: Niemann-Pick disease From the National Institutes of Health (National Library of Medicine)  
    ... signs and symptoms of the condition. Infants with Niemann-Pick disease type A usually develop an enlarged liver and spleen (hepatosplenomegaly) ... mental abilities and movement (psychomotor regression). Children with ... type A also develop widespread lung damage (interstitial lung disease) ...
  4. Bloom's Syndrome (Chicago Center for Jewish Genetic Disorders)  
    ... Disease and DLD Mucolipidosis IV (MLIV) Nemaline Myopathy Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, ... Disease and DLD Mucolipidosis IV (MLIV) Nemaline Myopathy Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, ...
  5. Niemann-Pick disease types A and B occur when cells in the body do not have an enzyme called acid sphingomyelinase ( ... For more information, visit the National Niemann-Pick Disease Foundation website: www.nnpdf.org
  6. Preconception Carrier Screening (American College of Obstetricians and Gynecologists) - PDF  
    ... disorders. Carrier screening is available for mucolipidosis IV, Niemann–Pick disease type A, Fanconi anemia group C, Bloom syndrome, and Gaucher ...
  7. G6PD Deficiency (Chicago Center for Jewish Genetic Disorders)  
    ... Disease and DLD Mucolipidosis IV (MLIV) Nemaline Myopathy Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, ...
  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 . A current NIH study is testing hydropropyl beta cyclodextin ...
  9. 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 of sphlingomyelinase but by a lack of ... that is altered in patients with Gaucher disease, type A and B D Niemann-Pick disease. In the year 2000, scientists discovered a second ...
  10. Rare Diseases Clinical Research Network (Rare Diseases Clinical Research Network)  
    ... Morquio syndrome Mucolipidosis Type IV Mucopolysaccharidoses (MPS) Mucopolysaccharidosis type IX Multiple sulfatase deficiency Niemann-Pick disease Northern Epilepsy Pompe Disease Pycnodysostosis Sandhoff disease Sanfilippo syndrome A Sanfilippo syndrome B Sanfilippo syndrome C Sanfilippo syndrome ...
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