Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ10)
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-011-9434-1
Reference42 articles.
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3. Bosch AM, Abeling NG, Ijlst L et al. (2010) Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis 34:159–164
4. Diomedi-Camassei F, Di Giandomenico S, Santorelli FM et al. (2007) COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol 18:2773–2780
5. Duncan AJ, Bitner-Glindzicz M, Meunier B et al. (2009) A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet 84:558–566
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