Case Study Suggests Further Research on Benign Focal Hepatic Lesions in ASMD
November 5th 2021Imaging studies and subsequent biopsies of a liver lesion showed a foamy macrophages aggregate in a 30-year-old patient with acid sphingomyelinase deficiency (ASMD) similar to those found in Gaucher disease.
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Plasma Lyso-sphingomyelin Levels Predict ASMD Severity, Study Finds
October 1st 2021Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder; a new report said that plasma lyso-sphingomyelin levels can be used to not only diagnose the rare disease but also predict severity and type.
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Comparing Cognitive Profiles of Niemann-Pick Disease Type C and Primary Dementia
June 27th 2018A comparison of neurocognitive profiles of patients with confirmed Niemann-Pick disease type C (NP-C) and early Alzheimer disease found that general dementia screening assessments should not be used alone to evaluate cognitive performance in patients with suspected NP-C since these patients may demonstrate milder cognitive deficits than patients with early Alzheimer disease.
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