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β-螺旋桨蛋白相关神经变性：一例报告及文献综述

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

作者信息

Stige Kjersti Eline, Gjerde Ivar Otto, Houge Gunnar, Knappskog Per Morten, Tzoulis Charalampos

机构信息

Department of Neurology Haukeland University Hospital Bergen Norway.

Center for Medical Genetics and Molecular Medicine Haukeland University Hospital Bergen Norway.

出版信息

Clin Case Rep. 2018 Jan 4;6(2):353-362. doi: 10.1002/ccr3.1358. eCollection 2018 Feb.

DOI:10.1002/ccr3.1358
PMID:29445477
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5799652/
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.

摘要

β-螺旋桨蛋白相关神经退行性变（BPAN）是一种罕见疾病，由于新一代测序技术，其越来越受到认可。由于表型高度可变，患者可能就诊于儿科、神经内科、精神科或内科。因此，不同专业的医生熟悉这种严重且使人衰弱的疾病至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6670/5799652/3a8c9cb88dee/CCR3-6-353-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6670/5799652/7ad4fe5fe0ed/CCR3-6-353-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6670/5799652/3a8c9cb88dee/CCR3-6-353-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6670/5799652/7ad4fe5fe0ed/CCR3-6-353-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6670/5799652/3a8c9cb88dee/CCR3-6-353-g002.jpg

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迟发性β-螺旋桨蛋白相关神经退行性变：一例报告
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