Atypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare hereditary neurodegenerative disease characterized by an accumulation of iron within the brain. In the present report, we describe a family with 4 affected siblings presenting with variable clinical manifestations, e.g., parkinsonian...

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Bibliografske podrobnosti
izdano v:Heliyon
Main Authors: Shalash, Ali S., Rösler, Thomas W., Abdelrahman, Ibrahim Y., Abulmakarem, Hatem S., Müller, Stefanie H., Hopfner, Franziska, Kuhlenbäumer, Gregor, Höglinger, Günter U., Salama, Mohamed
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2021
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC8273219/
https://ncbi.nlm.nih.gov/pubmed/34286134
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.heliyon.2021.e07469
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