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Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.
Stiles AR, Ferdinandusse S, Besse A, Appadurai V, Leydiker KB, Cambray-Forker EJ, Bonnen PE, Abdenur JE. Stiles AR, et al. Among authors: ferdinandusse s. Mol Genet Metab. 2015 Aug;115(4):161-7. doi: 10.1016/j.ymgme.2015.05.008. Epub 2015 May 15. Mol Genet Metab. 2015. PMID: 26026795 Free PMC article.
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.
Ebberink MS, Csanyi B, Chong WK, Denis S, Sharp P, Mooijer PA, Dekker CJ, Spooner C, Ngu LH, De Sousa C, Wanders RJ, Fietz MJ, Clayton PT, Waterham HR, Ferdinandusse S. Ebberink MS, et al. Among authors: ferdinandusse s. J Med Genet. 2010 Sep;47(9):608-15. doi: 10.1136/jmg.2009.074302. Epub 2010 Jul 20. J Med Genet. 2010. PMID: 20647552 Free article.
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.
Lines MA, Jobling R, Brady L, Marshall CR, Scherer SW, Rodriguez AR, Lee L, Lang AE, Mestre TA, Wanders RJ, Ferdinandusse S, Tarnopolsky MA; Canadian Pediatric Genetic Disorders Sequencing Consortium (FORGE Canada). Lines MA, et al. Among authors: ferdinandusse s. Neurology. 2014 Mar 18;82(11):963-8. doi: 10.1212/WNL.0000000000000219. Epub 2014 Feb 19. Neurology. 2014. PMID: 24553428 Free PMC article.
Diagnostic pitfall in antenatal manifestations of CPT II deficiency.
Boemer F, Deberg M, Schoos R, Caberg JH, Gaillez S, Dugauquier C, Delbecque K, François A, Maton P, Demonceau N, Senterre G, Ferdinandusse S, Debray FG. Boemer F, et al. Among authors: ferdinandusse s. Clin Genet. 2016 Feb;89(2):193-7. doi: 10.1111/cge.12593. Epub 2015 May 5. Clin Genet. 2016. PMID: 25827434
182 results