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First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan
Leukodystrophies (LDs) are heterogeneous genetic disorders characterized by abnormal white matter in the central nervous system. Some of the LDs are progressive and often fatal. In general, LD is primarily diagnosed based on the neuroimaging; however, definitive diagnosis of the LD type is done usin...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374869/ https://www.ncbi.nlm.nih.gov/pubmed/30834272 http://dx.doi.org/10.1155/2019/7235914 |