Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey

BACKGROUND: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disorder of PANK2, which enables mitochondrial synthesis of coenzyme A. Its loss causes neurodegeneration with iron accumulation primarily in motor-related brain areas. Symptoms include dystonia...

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Detalles Bibliográficos
Autores principales: Klopstock, Thomas, Mercimek-Andrews, Saadet, Jurecka, Agnieszka, Wood, Patricia, Cwyl, Maciej, Klucken, Angelika, López, Antonio, Scalise, Roberta, Valle, Andrea, Mollet, Fatemeh, Perez-Duenas, Belen, Skowronska, Marta, Chroscinska-Krawczyk, Magdalena, Escolar, Maria Luisa, Wade, Anna, Rintell, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472673/
https://www.ncbi.nlm.nih.gov/pubmed/37653408
http://dx.doi.org/10.1186/s13023-023-02869-1

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