Primary and secondary CoQ10 deficiencies in humans
Author:
Publisher
Wiley
Subject
Clinical Biochemistry,Molecular Medicine,General Medicine,Biochemistry
Reference46 articles.
1. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations;Lopez;Am. J. Hum. Genet.,2006
2. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency;Quinzii;Am. J. Hum. Genet.,2006
3. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement;Diomedi-Camassei;J. Am. Soc. Nephrol.,2007
4. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders;Mollet;J. Clin. Invest.,2007
5. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency;Lagier-Tourenne;Am. J. Hum. Genet.,2008
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