Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses
Abstract
1. Introduction
2. Results
3. Discussion
4. Materials and Methods
4.1. Study Participants
4.2. Sample Preparation
4.3. Measurement of LysoGb3 Concentration
4.4. Measurement of α-Gal A Activity In Vitro
4.5. Statistical Analysis
5. Conclusions
Author Contributions
Funding
Conflicts of Interest
Abbreviations
MPSs | Mucopolysaccharidoses |
GAGs | Glycosaminoglycans |
CNS | Central nervous system |
HS | Heparan sulfate |
LacCer | Lactosylceramide |
Gb3 | Globotriaosylceramide |
LysoGb3 | Globotriaosylsphingosine |
DBSs | Dried blood spots |
HPLC-MS/MS | High pressure liquid chromatography–tandem mass spectrometry |
LSDs | Lysosomal storage disorders |
LysoSLs | Lysosphingolipids |
α-Gal A | α-galactosidase A |
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Baydakova, G.; Ilyushkina, A.; Gaffke, L.; Pierzynowska, K.; Bychkov, I.; Ługowska, A.; Wegrzyn, G.; Tylki-Szymanska, A.; Zakharova, E. Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses. Diagnostics 2020, 10, 155. https://doi.org/10.3390/diagnostics10030155
Baydakova G, Ilyushkina A, Gaffke L, Pierzynowska K, Bychkov I, Ługowska A, Wegrzyn G, Tylki-Szymanska A, Zakharova E. Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses. Diagnostics. 2020; 10(3):155. https://doi.org/10.3390/diagnostics10030155
Chicago/Turabian StyleBaydakova, Galina, Alex Ilyushkina, Lidia Gaffke, Karolina Pierzynowska, Igor Bychkov, Agnieszka Ługowska, Grzegorz Wegrzyn, Anna Tylki-Szymanska, and Ekaterina Zakharova. 2020. "Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses" Diagnostics 10, no. 3: 155. https://doi.org/10.3390/diagnostics10030155
APA StyleBaydakova, G., Ilyushkina, A., Gaffke, L., Pierzynowska, K., Bychkov, I., Ługowska, A., Wegrzyn, G., Tylki-Szymanska, A., & Zakharova, E. (2020). Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses. Diagnostics, 10(3), 155. https://doi.org/10.3390/diagnostics10030155