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  1. Niemann-Pick disease: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/niemann-pick-disease
    ... B usually 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 ... although signs and symptoms can develop at any time. People with these ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... adulthood.</html:p><html:p >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 ... although signs and symptoms can develop at any time. People with these ...
  3. Bone Marrow or Blood Stem Cell Transplants in Children With Certain Rare Inherited Metabolic Diseases - Comparative ... 
    https://www.ncbi.nlm.nih.gov/books/NBK169011
    ... swollen joints more than usual treatment * 5 patients Niemann-Pick disease type A Did not appear to increase the chance of surviving when compared with only treating symptoms to make the child more comfortable 3 patients ...
  4. Lysosomal Acid Lipase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK305870
    ... to be associated with mutation of LIPA. Differential Diagnosis Acid sphingomyelinase deficiency (Niemann-Pick disease, types A and B). Overlapping clinical features of ...
  5. Niemann-Pick disease 
    https://medlineplus.gov/ency/article/001207.htm
    ... system and breathing. Each one can cause different symptoms and may occur at different times throughout life. ... provider if you have a family history of Niemann-Pick disease and you plan to ... of this disease, including: Developmental problems Feeding problems ...
  6. 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 ...
  7. Conclusions From Draft Comparative Effectiveness Review of HSCT - Future Research Needs for Hematopoietic Stem-Cell ... 
    https://www.ncbi.nlm.nih.gov/books/NBK84479
    ... HSCT Over Conventional Therapy For single HSCT for Niemann-Pick Type A. The evidence suggests no benefit of HSCT compared with symptom management or disease natural history. One case has been reported and ...
  8. Glycogen Storage Disease Type VI - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5941
    ... primary liver diseases should also be considered. 3. Niemann-Pick disease ... GSD VI (see Mitochondrial Disorders Overview ). Management ...
  9. Gaucher Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1269
    ... those found in other storage disorders such as Niemann-Pick disease type C. "Pseudo ... diagnosis of children with suspected Legg-Calvé-Perthes disease [ ...
  10. Tyrosinemia Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1515
    ... Finding View in own window Presenting Finding Differential Diagnosis Hypertyrosinemia Immature ... disease type C Wilson disease Neonatal hemochromatosis (OMIM ...
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