Publication: Global glycosphingolipid analysis in urine and plasma of female Fabry disease patients
Global glycosphingolipid analysis in urine and plasma of female Fabry disease patients
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Heywood, W. E., Doykov, I., Spiewak, J., Hallqvist, J., Mills, K., & Nowak, A. (2019). Global glycosphingolipid analysis in urine and plasma of female Fabry disease patients. Biochimica et Biophysica Acta. Molecular Basis of Disease, 1865(10), 2726–2735. https://doi.org/10.1016/j.bbadis.2019.07.005
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Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase-A, which results in accumulation of the glycosphingolipid (GSL) globotriaosylceramide (Gb). Gb and globotriaosylsphingosine (lyso-Gb) levels in plasma and urine are used routinely for diagnosis and treatment monitoring. FD female patients are problematic to diagnose and to predict when to begin treatment. Further biomarkers are needed to detect pre-symptomatic females that will develop the chronic symptoms associated with FD. A LC-MS/M
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- Heywood, Wendy E
- Doykov, Ivan
- Spiewak, Justyna
- Hallqvist, Jenny
- Mills, Kevin
- Nowak, Albina
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Heywood, W. E., Doykov, I., Spiewak, J., Hallqvist, J., Mills, K., & Nowak, A. (2019). Global glycosphingolipid analysis in urine and plasma of female Fabry disease patients. Biochimica et Biophysica Acta. Molecular Basis of Disease, 1865(10), 2726–2735. https://doi.org/10.1016/j.bbadis.2019.07.005
