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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Gastrointestinal manifestations of Niemann-Pick disease.

3 infants wih the acute neuronopathic form of Niemann-Pick disease had prominent gastrointestinal manifestations. These included chronic diarrhea, malnutrition, failure to thrive, radiologic intestinal abnormalities, xylose malabsorption, abnormal liver function, and infiltration of the liver, lamina propria and autonomic ganglia by lipid-laden cells. Possible pathogenetic mechanisms are discussed, and it is suggested that gastrointestinal disturbances play a larger part in the clinical manifestations of Niemann-Pick disease than is usually appreciated.[1]


  1. Gastrointestinal manifestations of Niemann-Pick disease. Dinari, G., Rosenbach, Y., Grunebaum, M., Zahavi, I., Alpert, G., Nitzan, M. Enzyme (1980) [Pubmed]
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