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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. 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 ...
  5. 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 ...
  6. 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 ...
  7. 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 ...
  8. 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 ...
  9. Sandhoff Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK579484
    ... 12 mos Seizures Coarse facies & skeletal abnormalities SMPD1 Niemann-Pick disease type A (See Acid Sphingomyelinase Deficiency .) + ≤12 mos Poor growth, xanthomas, & absence of seizures DiffDx = differential diagnosis; ERG = electroretinogram; HSM = hepatosplenomegaly; SD = Sandhoff disease; TSD = ...
  10. 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 ...
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