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...

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Библиографические подробности
Опубликовано в: :Front Neurol
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Frontiers Media S.A. 2017
Предметы:
Neuroscience
Online-ссылка: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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