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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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| Hauptverfasser: | , , , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2011
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| Schlagworte: | |
| Online Zugang: | 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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