Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle - PubMed (original) (raw)

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.

Kolz M, Johnson T, Sanna S, Teumer A, Vitart V, Perola M, Mangino M, Albrecht E, Wallace C, Farrall M, Johansson A, Nyholt DR, Aulchenko Y, Beckmann JS, Bergmann S, Bochud M, Brown M, Campbell H; EUROSPAN Consortium; Connell J, Dominiczak A, Homuth G, Lamina C, McCarthy MI; ENGAGE Consortium; Meitinger T, Mooser V, Munroe P, Nauck M, Peden J, Prokisch H, Salo P, Salomaa V, Samani NJ, Schlessinger D, Uda M, Völker U, Waeber G, Waterworth D, Wang-Sattler R, Wright AF, Adamski J, Whitfield JB, Gyllensten U, Wilson JF, Rudan I, Pramstaller P, Watkins H; PROCARDIS Consortium; Doering A, Wichmann HE; KORA Study; Spector TD, Peltonen L, Völzke H, Nagaraja R, Vollenweider P, Caulfield M; WTCCC; Illig T, Gieger C. Kolz M, et al. PLoS Genet. 2009 Jun;5(6):e1000504. doi: 10.1371/journal.pgen.1000504. Epub 2009 Jun 5. PLoS Genet. 2009. PMID: 19503597 Free PMC article.