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Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder of coenzyme A homeostasis caused by defects in the mitochondrial pantothenate kinase 2. Patients with PKAN present with a progressive neurological decline and brain iron accumulation, but general energy balanc...
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| 出版年: | Mol Genet Metab |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6059611/ https://ncbi.nlm.nih.gov/pubmed/23891537 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.06.017 |
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