Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature

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 ph...

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Autores principales: Stige, Kjersti Eline, Gjerde, Ivar Otto, Houge, Gunnar, Knappskog, Per Morten, Tzoulis, Charalampos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799652/
https://www.ncbi.nlm.nih.gov/pubmed/29445477
http://dx.doi.org/10.1002/ccr3.1358
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author Stige, Kjersti Eline
Gjerde, Ivar Otto
Houge, Gunnar
Knappskog, Per Morten
Tzoulis, Charalampos
author_facet Stige, Kjersti Eline
Gjerde, Ivar Otto
Houge, Gunnar
Knappskog, Per Morten
Tzoulis, Charalampos
author_sort Stige, Kjersti Eline
collection PubMed
description 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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spelling pubmed-57996522018-02-14 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 Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2018-01-04 /pmc/articles/PMC5799652/ /pubmed/29445477 http://dx.doi.org/10.1002/ccr3.1358 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Stige, Kjersti Eline
Gjerde, Ivar Otto
Houge, Gunnar
Knappskog, Per Morten
Tzoulis, Charalampos
Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature
title Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature
title_full Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature
title_fullStr Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature
title_full_unstemmed Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature
title_short Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature
title_sort beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799652/
https://www.ncbi.nlm.nih.gov/pubmed/29445477
http://dx.doi.org/10.1002/ccr3.1358
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