Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, inborn error of metabolism characterized by iron accumulation in the basal ganglia and by the presence of dystonia, dysarthria, and retinal degeneration. Mutations in pantothenate kinase 2 (PANK2), the rate-limiting enzyme in mitocho...

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Hlavní autoři: Leoni, Valerio, Strittmatter, Laura, Zorzi, Giovanna, Zibordi, Federica, Dusi, Sabrina, Garavaglia, Barbara, Venco, Paola, Caccia, Claudio, Souza, Amanda L, Deik, Amy, Clish, Clary B, Rimoldi, Marco, Ciusani, Emilio, Bertini, Enrico, Nardocci, Nardo, Mootha, Vamsi K, Tiranti, Valeria
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3487396/
https://ncbi.nlm.nih.gov/pubmed/22221393
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.12.005
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