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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...
Tallennettuna:
| Julkaisussa: | BMJ Case Rep |
|---|---|
| Päätekijät: | , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BMJ Publishing Group
2015
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| Aiheet: | |
| Linkit: | 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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