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  1. Niemann-Pick Disease Type C - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1296
    ... emphasized. Table 3. Hereditary Disorders in the Differential Diagnosis of Niemann-Pick Disease Type C – Neonatal and Infantile Presentations View in ... 4 . Table 4. Hereditary Disorders in the Differential Diagnosis of Niemann-Pick Disease Type C – Childhood Presentations View in own window ...
  2. MedlinePlus Drug Information: Arimoclomol 
    https://medlineplus.gov/druginfo/meds/a624065.html
    ... known exactly how arimoclomol works to treat neurologic symptoms in patients with Niemann-Pick disease type C.
  3. MedlinePlus Drug Information: Levacetylleucine 
    https://medlineplus.gov/druginfo/meds/a624063.html
    ... known how levacetylleucine works to treat the neurologic symptoms in patients with Niemann-Pick disease type C.
  4. 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 ...
  5. 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 ...
  6. 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 ...
  7. 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 ...
  8. 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 ...
  9. NLM Digital Collections - Tangier Disease: Tonsils May Cure Hearts 
    Publication: Interactive Media, [1967]
    resource.nlm.nih.gov/101584939X73
    ... rare fat storage disorders are studied. The tentative diagnosis was Niemann-Pick Disease. “One doctor said Teddy couldn’t live much ... was really getting on edge.” NAMED FOR ISLAND : Niemann-Pick Disease is ... include malnutrition, stomach and intestinal disturbances, and abnormalities ...
  10. Acid Sphingomyelinase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1370
    ... intermediate form; NPD-A/B) Chronic visceral ASMD (Niemann-Pick disease type B; NPD-B) ASMD = acid sphingomyelinase deficiency, which includes NPD-A, NPD-A/B, and NPD-B Diagnosis Acid sphingomyelinase deficiency (ASMD) cannot be diagnosed solely ...
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