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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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:BMJ Case Rep
Päätekijät: Tomás, José, Durães, João, Lacerda, Lúcia, Macário, Maria Carmo
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Publishing Group 2015
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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