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Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management

BACKGROUND: Neuroferritinopathy (NF) is a rare autosomal dominant disease caused by mutations in the ferritin light chain 1 (FTL1) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia. METHODS: A literature search was performed on Pubmed, for English-...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Tremor Other Hyperkinet Mov (N Y)
Prif Awduron: Kumar, Niraj, Rizek, Philippe, Jog, Mandar
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Columbia University Libraries/Information Services 2016
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795517/
https://ncbi.nlm.nih.gov/pubmed/27022507
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7916/D8KK9BHF
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