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124 results

  1. Niemann-Pick disease 
    https://medlineplus.gov/ency/article/001207.htm
    NPD; Sphingomyelinase deficiency; Lipid storage disorder - Niemann-Pick disease; Lysosomal storage disease - Niemann-Pick ... organizations can provide support and more information on Niemann-Pick disease: National Institute of Neurological Disorders and Stroke -- www. ...
  2. Niemann-Pick Disease Type C - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1296
    ... Search term GeneReviews Advanced Search Help < Prev Next > Niemann-Pick Disease Type C Marc Patterson , MD. Author Information and ... Ara Parseghian Medical Research Foundation parseghian.org International Niemann–Pick Disease Alliance (INPDA) Phone: 44 (0)191 4150693 Email: ...
  3. Genetic Brain Disorders 
    https://medlineplus.gov/geneticbraindisorders.html
    Genetic brain disorders affect the development and function of the brain. Some are inherited, some are caused by exposure, and others are both. ... A genetic ...
  4. MedlinePlus Drug Information: Arimoclomol 
    https://medlineplus.gov/druginfo/meds/a624065.html
    ... 2 years of age and older who have Niemann-Pick disease type C (NPC; an inherited disease in which ... works to treat neurologic symptoms in patients with Niemann-Pick disease type C.
  5. MedlinePlus Drug Information: Levacetylleucine 
    https://medlineplus.gov/druginfo/meds/a624063.html
    ... at least 33 pounds (15 kg) who have Niemann-Pick disease type C (NPC; an inherited disease in which ... to treat the neurologic symptoms in patients with Niemann-Pick disease type C.
  6. Acid Sphingomyelinase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1370
    ... criteria, click here . MedlinePlus Niemann-Pick disease National Niemann-Pick Disease Foundation (NNPDF) Phone: 877-287-3672 Email: nnpdf@ ... 4718 Email: jewishgenetics@juf.org jewishgenetics.org International Niemann–Pick Disease Alliance (INPDA) Phone: 44 (0)191 4150693 Email: ...
  7. Search Strategy for Recently Published and Ongoing Studies - Future Research Needs for Hematopoietic Stem-Cell ... 
    https://www.ncbi.nlm.nih.gov/books/NBK84475
    ... OR “Gaucher Disease” OR “gaucher's disease” OR “Niemann-Pick Disease*” OR “Tay-Sachs Disease” OR Aspartylglucosaminuria OR “beta- ... Lysosomal Storage Disease*” OR “Glycogen Storage Disease*” OR “Niemann-Pick Disease*” OR Adrenoleukodystrophy OR “Juvenile Rheumatoid Arthritis” OR “Systemic ...
  8. Lysosomal Acid Lipase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK305870
    ... mutation of LIPA. Differential Diagnosis Acid sphingomyelinase deficiency (Niemann-Pick disease, types A and B). Overlapping clinical features of lysosomal acid lipase (LAL) deficiency and Niemann-Pick disease types A and B are hepatosplenomegaly, which is ...
  9. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Niemann-Pick disease</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  10. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... C10.228.140.163.100.435.825.700 Niemann-Pick Diseases C10.228.140.163.100.435.825.700.500 Niemann-Pick Disease, Type A C10.228.140.163.100.435.825.700.750 Niemann-Pick Disease, Type B C10.228.140.163.100.435. ...
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