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what is niemann-pick disease and what are the disease
symptoms?
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Answer Posted / swetha
Niemann-Pick diseases are genetic diseases which are
classified in a subgroup of LSDs called sphingolipidoses or
lipid storage disorders in which harmful quantities of fatty
substances, or lipids, accumulate in the spleen, liver,
lungs, bone marrow, and brain. In the classic infantile type
A variant, a missense mutation causes complete deficiency of
sphingomyelinase.
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