Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration

BACKGROUND: Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder with brain iron accumulation (NBIA). OBJECTIVES: To assess PKAN diagnostic pathway, history, and burden across the spectrum of PKAN severity from patient and/or caregiver perspect...

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Detalles Bibliográficos
Autores principales: Marshall, Randall D., Collins, Abigail, Escolar, Maria L., Jinnah, H. A., Klopstock, Thomas, Kruer, Michael C., Videnovic, Aleksandar, Robichaux-Viehoever, Amy, Burns, Colleen, Swett, Laura L., Revicki, Dennis A., Bender, Randall H., Lenderking, William R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625120/
https://www.ncbi.nlm.nih.gov/pubmed/31300018
http://dx.doi.org/10.1186/s13023-019-1142-1

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