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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Heliyon
Päätekijät: Shalash, Ali S., Rösler, Thomas W., Abdelrahman, Ibrahim Y., Abulmakarem, Hatem S., Müller, Stefanie H., Hopfner, Franziska, Kuhlenbäumer, Gregor, Höglinger, Günter U., Salama, Mohamed
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2021
Aiheet:
Case Report
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia