Articles with "lysosphingolipid urine" as a keyword



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Lysosphingolipid urine screening test using mass spectrometry for the early detection of lysosomal storage disorders.

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Published in 2022 at "Bioanalysis"

DOI: 10.4155/bio-2021-0259

Abstract: Background: Sphingolipidoses are caused by a defective sphingolipid catabolism, leading to an accumulation of several glycolipid species in tissues and resulting in neurotoxicity and severe systemic manifestations. Methods & results: Urine samples from controls and… read more here.

Keywords: mass spectrometry; using mass; lysosphingolipid urine; test using ... See more keywords