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| 1 | Camila Xu | + 485 word(s) | 485 | 2020-12-15 07:29:03 |
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Xu, C. Krabbe Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/4448 (accessed on 28 September 2026).
Xu C. Krabbe Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/4448. Accessed September 28, 2026.
Xu, Camila. "Krabbe Disease" Encyclopedia, https://encyclopedia.pub/entry/4448 (accessed September 28, 2026).
Xu, C. (2020, December 23). Krabbe Disease. In Encyclopedia. https://encyclopedia.pub/entry/4448
Xu, Camila. "Krabbe Disease." Encyclopedia. Web. 23 December, 2020.
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Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological condition. It is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination) in the nervous system. Myelin is the protective covering around nerve cells that ensures the rapid transmission of nerve signals. Krabbe disease is also characterized by abnormal cells in the brain called globoid cells, which are large cells that usually have more than one nucleus.
genetic conditions
References
- Graziano AC, Cardile V. History, genetic, and recent advances on Krabbedisease. Gene. 2015 Jan 15;555(1):2-13. doi: 10.1016/j.gene.2014.09.046.
- National Institute of Neurological Disorders and Stroke: Krabbe Disease
- Sakai N. Pathogenesis of leukodystrophy for Krabbe disease: molecularmechanism and clinical treatment. Brain Dev. 2009 Aug;31(7):485-7. doi:10.1016/j.braindev.2009.03.001.
- Shin D, Feltri ML, Wrabetz L. Altered Trafficking and Processing of GALCMutants Correlates with Globoid Cell Leukodystrophy Severity. J Neurosci. 2016Feb 10;36(6):1858-70. doi: 10.1523/JNEUROSCI.3095-15.2016.
- Spratley SJ, Hill CH, Viuff AH, Edgar JR, Skjødt K, Deane JE. MolecularMechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. Traffic.2016 Aug;17(8):908-22. doi: 10.1111/tra.12404.
- Wenger DA, Rafi MA, Luzi P. Krabbe disease: One Hundred years from the bedsideto the bench to the bedside. J Neurosci Res. 2016 Nov;94(11):982-9. doi:10.1002/jnr.23743. Review.
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