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Page 1
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.
Fraser JL, Vanderver A, Yang S, Chang T, Cramp L, Vezina G, Lichter-Konecki U, Cusmano-Ozog KP, Smpokou P, Chapman KA, Zand DJ. Fraser JL, et al. Mol Genet Metab Rep. 2014 Feb 11;1:66-70. doi: 10.1016/j.ymgmr.2013.12.007. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896076 Free PMC article.
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
Billington CJ Jr, Chapman KA, Leon E, Meltzer BW, Berger SI, Olson M, Figler RA, Hoang SA, Wanxing C, Wamhoff BR, Collado MS, Cusmano-Ozog K. Billington CJ Jr, et al. Among authors: cusmano ozog k. Am J Med Genet A. 2022 Sep;188(9):2738-2749. doi: 10.1002/ajmg.a.62893. Epub 2022 Jul 7. Am J Med Genet A. 2022. PMID: 35799415 Free PMC article.
What is in the can? The dilemma with dietary supplements.
D'Aco K, Mooney R, Cusmano-Ozog K, Hofherr S, Lichter-Konecki U. D'Aco K, et al. Mol Genet Metab. 2014 Dec;113(4):239-40. doi: 10.1016/j.ymgme.2014.10.009. Epub 2014 Oct 22. Mol Genet Metab. 2014. PMID: 25453401 No abstract available.
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.
Manoli I, Sysol JR, Li L, Houillier P, Garone C, Wang C, Zerfas PM, Cusmano-Ozog K, Young S, Trivedi NS, Cheng J, Sloan JL, Chandler RJ, Abu-Asab M, Tsokos M, Elkahloun AG, Rosen S, Enns GM, Berry GT, Hoffmann V, DiMauro S, Schnermann J, Venditti CP. Manoli I, et al. Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13552-7. doi: 10.1073/pnas.1302764110. Epub 2013 Jul 29. Proc Natl Acad Sci U S A. 2013. PMID: 23898205 Free PMC article. Clinical Trial.
40 results