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Results 1 - 10 of 71 for "Niemann-Pick" "disease," type A
  1. ... 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 ...
  2. Genetics Home Reference: Niemann-Pick disease From the National Institutes of Health (National Library of Medicine)  
    ... the genetic cause and the signs and symptoms. Niemann-Pick disease type A appears during infancy and is characterized by an ... Due to the involvement of the nervous system, Niemann-Pick disease type A is also known as the neurological type. Children ...
  3. 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
  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, ...
  5. 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 ...
  6. 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, ...
  7. National Niemann-Pick Disease Foundation (National Niemann-Pick Disease Foundation)  
    ... 2014* 2014 Schuchman Fellowship RFA (study of ASMD; Types A & B Niemann-Pick Disease) NNPDF-Funded Research *May 2014* Update on the ...
  8. 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 ...
  9. 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 disease. Children usually die from infection or progressive neurological loss. There is currently no effective treatment for persons with type A . Bone marrow transplantation has been attempted in a ...
  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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