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- W3034280600 abstract "Gaucher disease is the most common of the lysosomal storage diseases caused by a defect in the lysosomal enzyme βglucocererbrosidase resulting in multi-organ involvement. The presence of cholelithiasis has been rarely observed among patients with non-neuronopathic type of Gaucher disease and the exact pathophysiology is still unknown. We report a Filipino child with chronic neuronopathic Gaucher Disease noted to have cholelithiasis on routine whole abdominal ultrasonography as part of the regular monitoring of the disease." @default.
- W3034280600 created "2020-06-19" @default.
- W3034280600 creator A5016092659 @default.
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- W3034280600 date "2017-09-29" @default.
- W3034280600 modified "2023-10-18" @default.
- W3034280600 title "Cholelithiasis in a Filipino Child with Chronic Neuronopathic Gaucher Disease: A Case Report" @default.
- W3034280600 cites W46492828 @default.
- W3034280600 doi "https://doi.org/10.47895/amp.v51i3.559" @default.
- W3034280600 hasPublicationYear "2017" @default.
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