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Niemannove-Pickove choroby

  1. Subject h.Niemannove-Pickove choroby
    Subject h.Niemann-Pick Diseases
    Entry termsNiemannova-Pickova choroba
    Niemann-Pickova choroba
    deficit kyslej sfingomyelinázy
    deficit ASM
    ASM deficientná Niemannova-Pickova choroba
    Niemannova-Pickova choroba s deficitom kyslej sfingomyelinázy
    English X referencesASM Deficiency
    ASM-Deficient Niemann-Pick Disease
    Acid Sphingomyelinase Deficiency
    Acid Sphingomyelinase-deficient Niemann-Pick Disease
    Niemann-Pick Disease
    Scope note in EnglishA group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.
    See also reference (FX) in Slovak syndróm modrých histiocytov
    sfingomyelínfosfodiesteráza
    See also reference (FX) in English Sea-Blue Histiocyte Syndrome
    Sphingomyelin Phosphodiesterase
    Links (5) - ARTICLES
    (2) - MeSH descriptor
    (3) - BOOKS
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Number of the records: 1  

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