Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy

Here, we report the case of a 36-year-old patient with a diagnosis of de novo mutation of the WDR45 gene, responsible for beta-propeller protein-associated neurodegeneration, a phenotypically distinct, X-linked dominant form of Neurodegeneration with Brain Iron Accumulation. The clinical history is...

詳細記述

保存先:
書誌詳細
出版年:Front Neurol
主要な著者: Fonderico, Mattia, Laudisi, Michele, Andreasi, Nico Golfrè, Bigoni, Stefania, Lamperti, Costanza, Panteghini, Celeste, Garavaglia, Barbara, Carecchio, Miryam, Emanuele, Elia Antonio, Forni, Gian L., Granieri, Enrico
フォーマット: Artigo
言語:Inglês
出版事項: Frontiers Media S.A. 2017
主題:
Neuroscience
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5573443/
https://ncbi.nlm.nih.gov/pubmed/28878728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2017.00385
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