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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Enregistré dans:
Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2019
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6625120/
https://ncbi.nlm.nih.gov/pubmed/31300018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1142-1
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