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Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation
Krabbe disease is a rare autosomal recessive leucodystrophy, with <5% of the cases having an adolescent-onset form. A 30-year-old woman with a history of a subacute episode of gait impairment at 14 years of age, and mild spastic paraparesis since then, was followed with an initial diagnosis of mu...
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| Publicat a: | BMJ Case Rep |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Publishing Group
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4593283/ https://ncbi.nlm.nih.gov/pubmed/26396125 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2015-210625 |
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