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Fabry heterozygote mimicking multiple sclerosis

Fabry’s disease (FD) is a recognised mimic of multiple sclerosis (MS). It is an X-linked storage lysosomal disorder with deficiency of α-galactosidase A and enzyme replacement therapy is available. Patients with FD may satisfy modified McDonald criteria if the diagnosis of FD has not been pursued. W...

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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Yau, Wai Yan, Fabis-Pedrini, Marzena J, Kermode, Allan G
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5534993/
https://ncbi.nlm.nih.gov/pubmed/28576916
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2017-220274
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