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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Udgivet i:Mol Genet Metab
Main Authors: Williams, Sarah, Gregory, Allison, Hogarth, Penelope, Hayflick, Susan J., Gillingham, Melanie B.
Format: Artigo
Sprog:Inglês
Udgivet: 2013
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Article
Online adgang: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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