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Page 1
The genotypic and phenotypic spectrum of MTO1 deficiency.
O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM. O'Byrne JJ, et al. Among authors: wortmann sb. Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15. Mol Genet Metab. 2018. PMID: 29331171 Free PMC article.
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E. Wortmann S, et al. Mol Genet Metab. 2006 May;88(1):47-52. doi: 10.1016/j.ymgme.2006.01.013. Epub 2006 Mar 9. Mol Genet Metab. 2006. PMID: 16527507
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. Pediatr Res. 2009 Jan;65(1):103-8. doi: 10.1203/PDR.0b013e31818d1c8a. Pediatr Res. 2009. PMID: 19096353
Substrate deprivation therapy in juvenile Sandhoff disease.
Wortmann SB, Lefeber DJ, Dekomien G, Willemsen MA, Wevers RA, Morava E. Wortmann SB, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S307-11. doi: 10.1007/s10545-009-1261-2. Epub 2009 Nov 4. J Inherit Metab Dis. 2009. PMID: 19898952
194 results