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181 results

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Page 1
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. Among authors: enns gm. 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.
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.
Camp KM, Lloyd-Puryear MA, Yao L, Groft SC, Parisi MA, Mulberg A, Gopal-Srivastava R, Cederbaum S, Enns GM, Ershow AG, Frazier DM, Gohagan J, Harding C, Howell RR, Regan K, Stacpoole PW, Venditti C, Vockley J, Watson M, Coates PM. Camp KM, et al. Among authors: enns gm. Mol Genet Metab. 2013 Aug;109(4):319-28. doi: 10.1016/j.ymgme.2013.05.008. Epub 2013 May 23. Mol Genet Metab. 2013. PMID: 23806236 Free PMC article.
Abnormal hepatocellular mitochondria in methylmalonic acidemia.
Wilnai Y, Enns GM, Niemi AK, Higgins J, Vogel H. Wilnai Y, et al. Among authors: enns gm. Ultrastruct Pathol. 2014 Oct;38(5):309-14. doi: 10.3109/01913123.2014.921657. Epub 2014 Jun 16. Ultrastruct Pathol. 2014. PMID: 24933007
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S. Parikh S, et al. Among authors: enns gm. Genet Med. 2015 Sep;17(9):689-701. doi: 10.1038/gim.2014.177. Epub 2014 Dec 11. Genet Med. 2015. PMID: 25503498 Free PMC article. Review.
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.
Manoli I, Sysol JR, Epping MW, Li L, Wang C, Sloan JL, Pass A, Gagné J, Ktena YP, Li L, Trivedi NS, Ouattara B, Zerfas PM, Hoffmann V, Abu-Asab M, Tsokos MG, Kleiner DE, Garone C, Cusmano-Ozog K, Enns GM, Vernon HJ, Andersson HC, Grunewald S, Elkahloun AG, Girard CL, Schnermann J, DiMauro S, Andres-Mateos E, Vandenberghe LH, Chandler RJ, Venditti CP. Manoli I, et al. Among authors: enns gm. JCI Insight. 2018 Dec 6;3(23):e124351. doi: 10.1172/jci.insight.124351. JCI Insight. 2018. PMID: 30518688 Free PMC article.
181 results