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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
Ajit Bolar N, Vanlander AV, Wilbrecht C, Van der Aa N, Smet J, De Paepe B, Vandeweyer G, Kooy F, Eyskens F, De Latter E, Delanghe G, Govaert P, Leroy JG, Loeys B, Lill R, Van Laer L, Van Coster R. Ajit Bolar N, et al. Among authors: de paepe b, de latter e. Hum Mol Genet. 2013 Jul 1;22(13):2590-602. doi: 10.1093/hmg/ddt107. Epub 2013 Mar 5. Hum Mol Genet. 2013. PMID: 23462291
Infantile presentation of the mitochondrial A8344G mutation.
Scalais E, Nuttin C, Seneca S, Smet J, De Paepe B, Martin JJ, Stevens R, Pierart F, Battisti O, Lissens W, De Meirleir L, Van Coster R. Scalais E, et al. Among authors: de meirleir l, de paepe b. Eur J Neurol. 2007 Nov;14(11):e3-5. doi: 10.1111/j.1468-1331.2007.01926.x. Eur J Neurol. 2007. PMID: 17956438 Free article. No abstract available.
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects.
Roels F, Verloo P, Eyskens F, François B, Seneca S, De Paepe B, Martin JJ, Meersschaut V, Praet M, Scalais E, Espeel M, Smet J, Van Goethem G, Van Coster R. Roels F, et al. Among authors: de paepe b. BMC Clin Pathol. 2009 Jun 5;9:4. doi: 10.1186/1472-6890-9-4. BMC Clin Pathol. 2009. PMID: 19500334 Free PMC article.
Lactic acidosis in a newborn with adrenal calcifications.
Zecic A, Smet JE, De Praeter CM, Vanhaesebrouck P, Viscomi C, Van Den Broecke C, De Paepe B, Lohse P, Martin JJ, Jackson JG, Campbell CR, De Meirleir LJ, Zeviani M, Seneca SH, Lissens W, Van Coster RN. Zecic A, et al. Among authors: de paepe b, de meirleir lj, de praeter cm. Pediatr Res. 2009 Sep;66(3):317-22. doi: 10.1203/PDR.0b013e3181b40a80. Pediatr Res. 2009. PMID: 19581830 Free PMC article.
121 results