A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy

We present a case of beta-propeller protein-associated neurodegeneration, a form of neurodegeneration with brain iron accumulation. The patient harbored a novel mutation in the WDR45 gene. A detailed video and description of her clinical condition are provided. Her movement disorder phenomenology wa...

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Bibliografiska uppgifter
I publikationen:J Mov Disord
Huvudupphovsmän: Lim, Shen-Yang, Tan, Ai Huey, Ahmad-Annuar, Azlina, Schneider, Susanne A., Bee, Ping Chong, Lim, Jia Lun, Ramli, Norlisah, Idris, Mohamad Imran
Materialtyp: Artigo
Språk:Inglês
Publicerad: The Korean Movement Disorder Society 2018
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5990906/
https://ncbi.nlm.nih.gov/pubmed/29860786
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14802/jmd.17082
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