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Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K, Albrecht B, Wieczorek D, Engels H, Hahn D, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Trollmann R, Sperl W, Strom TM, Hoffmann GF, Mayr JA, Meitinger T, Bolognini R, Schuelke M, Nuoffer JM, Kölker S, Prokisch H, Klopstock T. Haack TB, et al. Among authors: de vries mc. Ann Clin Transl Neurol. 2015 May;2(5):492-509. doi: 10.1002/acn3.189. Epub 2015 Mar 13. Ann Clin Transl Neurol. 2015. PMID: 26000322 Free PMC article.
Dietary intervention and oxidative phosphorylation capacity.
Morava E, Rodenburg R, van Essen HZ, De Vries M, Smeitink J. Morava E, et al. J Inherit Metab Dis. 2006 Aug;29(4):589. doi: 10.1007/s10545-006-0227-x. Epub 2006 Jun 19. J Inherit Metab Dis. 2006. PMID: 16786255
Mitochondrial disease criteria: diagnostic applications in children.
Morava E, van den Heuvel L, Hol F, de Vries MC, Hogeveen M, Rodenburg RJ, Smeitink JA. Morava E, et al. Among authors: de vries mc. Neurology. 2006 Nov 28;67(10):1823-6. doi: 10.1212/01.wnl.0000244435.27645.54. Neurology. 2006. PMID: 17130416
Mitochondrial energy production correlates with the age-related BMI.
Wortmann SB, Zweers-van Essen H, Rodenburg RJ, van den Heuvel LP, de Vries MC, Rasmussen-Conrad E, Smeitink JA, Morava E. Wortmann SB, et al. Among authors: de vries mc. Pediatr Res. 2009 Jan;65(1):103-8. doi: 10.1203/PDR.0b013e31818d1c8a. Pediatr Res. 2009. PMID: 19096353
167 results