Number of the records: 1  

Niemannove-Pickove choroby

  1. Record numberd009542
    Date06.06.2025
    TypeM - MESH
    Topical termNiemannove-Pickove choroby
    Other termEnglish (Pseudonym) Acid Sphingomyelinase Deficiency
    English (Pseudonym) Acid Sphingomyelinase-Deficient Niemann-Pick Disease
    English (Pseudonym) ASM Deficiency
    English (Pseudonym) ASM-Deficient Niemann-Pick Disease
    English (Pseudonym) Niemann-Pick Disease
    Slovak (Pseudonym) Niemannova-Pickova choroba
    Slovak (Pseudonym) Niemann-Pickova choroba
    Slovak (Pseudonym) deficit kyslej sfingomyelinázy
    Slovak (Pseudonym) deficit ASM
    Slovak (Pseudonym) ASM deficientná Niemannova-Pickova choroba
    Slovak (Pseudonym) Niemannova-Pickova choroba s deficitom kyslej sfingomyelinázy
    See also(Skutočné meno) syndróm modrých histiocytov
    (Skutočné meno) sfingomyelínfosfodiesteráza
    (Later heading) syndróm modrých histiocytov
    (Later heading) sfingomyelínfosfodiesteráza
    UDCC10.228.140.163.100.435.825.700C15.604.250.410.625C16.320.565.189.435.825.700C16.320.565.398.641.803.730C16.320.565.595.554.825.700C18.452.132.100.435.825.700C18.452.584.563.641.803.730C18.452.648.189.435.825.700C18.452.648.398.641.803.730C18.452.648.595.554.825.700
    NoteA 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.
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Number of the records: 1  

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