| 1 | ADCK3, COQ2, COQ6, COQ9, PDSS1, PDSS2
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| Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).
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| Horvath R.
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| J Inherit Metab Dis 35(4):679-87. doi: 10.1007/s10545-011-9434-1. Epub 2012 Jan 10. Review.
2012
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| 2 | COQ2
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| http://www.ncbi.nlm.nih.gov/pubmed/20556877
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| Schon EA, DiMauro S, Hirano M, Gilkerson RW.
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| Trends Mol Med. 16(6):268-76. 2010
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| 3 | ADCK3, COQ10D1, COQ10D2, COQ10D3, COQ2, PDSS1, PDSS2, UDCA
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| Human CoQ10 deficiencies.
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| Quinzii CM, López LC, Naini A, DiMauro S, Hirano M.
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| Biofactors 32(1-4):113-8.PMID: 19096106 2008
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| 4 | COQ10D,COQ2
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| Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo yrimidine synthesis.
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| Lopez-Martin JM, Salviati L, Trevisson E, Montini G, Dimauro S, Quinzii C, Hirano M, Rodriguez-Hernandez A, Cordero MD, Sanchez-Alcazar JA, Santos-Ocana C, Navas P.
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| Hum Mol Genet 16(9):1091-7. Epub 2007 Mar 20. 2007
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| 5 | COQ10D, COQ2, PDSS2
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| COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
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| Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, Ghiggeri GM, Murer L, Barisoni L, Pastore A, Muda AO, Valente ML, Bertini E, Emma F.
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| J Am Soc Nephrol 18(10):2773-80. Epub 2007 Sep 12.PMID: 17855635 2007
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| 6 | COQ2, COQ10D
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| A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency.
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| Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M.
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| Am J Hum Genet 78(2):345-9. Epub 2005 Dec 22. 2006
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| 7 | COQ10D, COQ2
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| Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.
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| Salviati L, Sacconi S, Murer L, Zacchello G, Franceschini L, Laverda AM, Basso G, Quinzii C, Angelini C, Hirano M, Naini AB, Navas P, DiMauro S, Montini G.
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| Neurology 65(4):606-8. 2005
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| 8 | COQ2
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| Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ.
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| Forsgren M, Attersand A, Lake S, Grunler J, Swiezewska E, Dallner G, Climent I.
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| Biochem J. 382:519-26. 2004
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