Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure-Reference-Cited by-同舟云学术

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

Published:2015-01-07 Issue:9 Volume:23 Page:1254-1258
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Desbats Maria Andrea,Vetro Annalisa,Limongelli Ivan^ORCID,Lunardi Giada,Casarin Alberto,Doimo Mara,Spinazzi Marco,Angelini Corrado,Cenacchi Giovanna,Burlina Alberto,Rodriguez Hernandez Maria Angeles,Chiandetti Lino,Clementi Maurizio,Trevisson Eva,Navas Placido,Zuffardi Orsetta,Salviati Leonardo

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014277.pdf

Reference20 articles.

1. Doimo M, Desbats MA, Cerqua C, Cassina M, Trevisson E, Salviati L : Genetics of coenzyme q10 deficiency. Mol Syndromol 2014; 5: 156–162.

2. Forsgren M, Attersand A, Lake S et al: Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ. Biochem J 2004; 382: 519–526.

3. Quinzii CM, Emmanuele V, Hirano M : Clinical presentations of coenzyme q10 deficiency syndrome. Mol Syndromol 2014; 5: 141–146.

4. Diomedi-Camassei F, Di Giandomenico S, Santorelli FM et al: COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol 2007; 18: 2773–2780.

5. Mollet J, Giurgea I, Schlemmer D et al: Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest 2007; 117: 765–772.

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