Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-014-9749-9
Reference91 articles.
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2. Anheim M, Fleury M, Monga B et al (2010) Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. Neurogenetics 11:1–12
3. Ashraf S, Gee HY, Woerner S et al (2013) ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest 123:5179–5189
4. Avis HJ, Hargreaves IP, Ruiter JP et al (2011) Rosuvastatin lowers coenzyme Q10 levels, but not mitochondrial adenosine triphosphate synthesis, in children with familial hypercholesterolemia. J Pediatr 158:458–462
5. Barros MH, Johnson A, Gin P, Marbois BN, Clarke CF, Tzagoloff A (2005) The Saccharomyces cerevisiae COQ10 gene encodes a START domain protein required for function of coenzyme Q in respiration. J Biol Chem 280:42627–42635
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