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An Autopsy Proven Case of CSF1R-mutant Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) with Premature Ovarian Failure
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter disorder caused by mutations in the tyrosine kinase domain of the CSF1R gene. ALSP is often misdiagnosed as other diseases due to its rarity and various clinical presentations s...
Autores principales: | Kim, Seong-Ik, Jeon, Beomseok, Bae, Jeongmo, Won, Jae Kyung, Kim, Han-Joon, Yim, Jeemin, Kim, Yun Joong, Park, Sung-Hye |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Society for Brain and Neural Science
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6401550/ https://www.ncbi.nlm.nih.gov/pubmed/30853829 http://dx.doi.org/10.5607/en.2019.28.1.119 |
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