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• W2022861593 abstract "Niemann–Pick disease type B (NPD-B) is caused by a partial deficiency of acid sphingomyelinase activity and results in the accumulation of lysosomal sphingomyelin (SPM) predominantly in macrophages. Notably, SPM is not significantly elevated in the plasma, whole blood, or urine of NPD-B patients. Here, we show that the de-acylated form of sphingomyelin, lyso-SPM, is elevated approximately 5-fold in dried blood spots (DBS) from NPD-B patients and has no overlap with normal controls, making it a potentially useful biomarker." @default.
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• W2022861593 date "2014-02-01" @default.
• W2022861593 modified "2023-09-26" @default.
• W2022861593 title "Lyso-sphingomyelin is elevated in dried blood spots of Niemann–Pick B patients" @default.
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• W2022861593 doi "https://doi.org/10.1016/j.ymgme.2013.11.012" @default.
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