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2288 pages added, reviewed or updated during the last month (last updated: 19/4/2021)

2288 pages added, reviewed or updated during the last month (last updated: 19/4/2021)


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Niemann-Pick disease

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Niemann-Pick disease is the result of an inborn error of sphyingomyelinase, resulting in abnormal storage in the reticuloendothelial system and the accumulation of sphingomyelin in different organs. Two of the four recognised varieties are neuronopathic.

On liver or marrow biopsy typical foam cells can be found.

Last reviewed 01/2018

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