Elevated globotriaosylsphingosine is a hallmark of Fabry disease
By J. Aerts, J. Groener, S. Kuiper, W. Donker‐Koopman, A. Strijland, R. Ottenhoff, C. V. van Roomen, M. Mirzaian, F. Wijburg, G. Linthorst and 8 more. Proceedings of the National Academy of Sciences of the United States of America, 2008
704 citations recorded by the source corpus.
Subfields: Molecular Biology, Pathology and Forensic Medicine, Physiology
View Paper: https://www.semanticscholar.org/paper/85e48d75d9ec34890db762da37a5aaa4c7439e31
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Citations in the corpus
- Fabry disease (2010, background): “This analyte is elevated in the plasma of hemizygous males and to a lesser extent in that of adult females with classical FD and lyso-Gb3 appears interesting to monitor enzyme replacement therapy [244,280].”