Article
The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.
Kidney international - 1 Mar 2015
Hall Andrew M, Vilasi Annalisa, Garcia-Perez Isabel, Lapsley Marta, Alston Charlotte L, Pitceathly Robert D S, McFarland Robert, Schaefer Andrew M, Turnbull Doug M, Beaumont Nick J, Hsuan Justin J, Cutillas Pedro R, Lindon John C, Holmes Elaine, Unwin Robert J, Taylor Robert W, Gorman Grainne S, Rahman Shamima, Hanna Michael G
Abstract excerpt
We studied the extent and nature of renal involvement in a cohort of 117 adult patients with mitochondrial disease, by measuring urinary retinol-binding protein (RBP) and albumin; established markers of tubular and glomerular dysfunction, respectively. Seventy-five patients had the m.3243A>G mutation and the most frequent phenotypes within the entire cohort were 14 with MELAS, 33 with MIDD, and 17 with MERRF....
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