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Acid sphingomyelinase deficiency is a lysosomal disorder characterized by acid sphingomyelinase deficiency leading to the accumulation of sphingomyelin in a variety of cell types. In ASMD patients, high Lysosphingomyelin 509 levels have also been observed. By ultra-performance liquid chromatography tandem mass spectrometry, we show the value of quantitative analysis of LysoSM and LysoSM509 in DBS of patients from Latin America with ASMD. Results DBS samples from 14 ASMD patients were compared to 15 controls and 44 general newborns.
Source link: https://doi.org/10.1186/s13023-022-02560-x
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