Pantothenate kinase-associated neurodegeneration (PKAN) in a child with Down syndrome. A case report and follow-up with MRI

Neurodegeneration with brain iron accumulation (NBIA) is a subtype of inherited metabolic disorders. It includes pantothenate kinase-associated neurodegeneration (PKAN), which is a rare autosomal recessive disorder caused by the mutation of pantothenate kinase 2-gene (PANK2). It affects the deep gre...

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Dades bibliogràfiques
Publicat a:BJR Case Rep
Autors principals: Hakim, A, Rozeik, C, Fedorcak, M
Format: Artigo
Idioma:Inglês
Publicat: The British Institute of Radiology 2015
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6180817/
https://ncbi.nlm.nih.gov/pubmed/30363610
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1259/bjrcr.20150011
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