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Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.
Stige, Kjersti Eline; Gjerde, Ivar Otto; Houge, Gunnar; Knappskog, Per Morten; Tzoulis, Charalampos.
Afiliação
  • Stige KE; Department of Neurology Haukeland University Hospital Bergen Norway.
  • Gjerde IO; Department of Neurology Haukeland University Hospital Bergen Norway.
  • Houge G; Center for Medical Genetics and Molecular Medicine Haukeland University Hospital Bergen Norway.
  • Knappskog PM; Center for Medical Genetics and Molecular Medicine Haukeland University Hospital Bergen Norway.
  • Tzoulis C; Department of Clinical Science K.G. Jebsen Centre for Neuropsychiatric Disorders University of Bergen Bergen Norway.
Clin Case Rep ; 6(2): 353-362, 2018 02.
Article em En | MEDLINE | ID: mdl-29445477
ABSTRACT
Beta-propeller protein-associated neurodegeneration (BPAN) is a rare disorder, which is increasingly recognized thanks to next-generation sequencing. Due to a highly variable phenotype, patients may present to pediatrics, neurology, psychiatry, or internal medicine. It is therefore essential that physicians of different specialties are familiar with this severe and debilitating condition.
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Clin Case Rep Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Clin Case Rep Ano de publicação: 2018 Tipo de documento: Article