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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
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.
Diekman EF, Ferdinandusse S, van der Pol L, Waterham HR, Ruiter JP, Ijlst L, Wanders RJ, Houten SM, Wijburg FA, Blank AC, Asselbergs FW, Houtkooper RH, Visser G. Diekman EF, et al. Among authors: ferdinandusse s. Genet Med. 2015 Dec;17(12):989-94. doi: 10.1038/gim.2015.22. Epub 2015 Apr 2. Genet Med. 2015. PMID: 25834949 Free article.
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.
Clinical and biochemical spectrum of D-bifunctional protein deficiency.
Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gärtner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT. Ferdinandusse S, et al. Ann Neurol. 2006 Jan;59(1):92-104. doi: 10.1002/ana.20702. Ann Neurol. 2006. PMID: 16278854
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.
182 results