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Isolated sulfite oxidase deficiency.
Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P. Claerhout H, et al. Among authors: jansen k. J Inherit Metab Dis. 2018 Jan;41(1):101-108. doi: 10.1007/s10545-017-0089-4. Epub 2017 Oct 4. J Inherit Metab Dis. 2018. PMID: 28980090 Review.
ALG11-CDG: Three novel mutations and further characterization of the phenotype.
Regal L, van Hasselt PM, Foulquier F, Cuppen I, Prinsen H, Jansen K, Keldermans L, De Meirleir L, Matthijs G, Jaeken J. Regal L, et al. Among authors: jansen k. Mol Genet Metab Rep. 2014 Nov 25;2:16-19. doi: 10.1016/j.ymgmr.2014.11.006. eCollection 2015 Mar. Mol Genet Metab Rep. 2014. PMID: 28649519 Free PMC article.
PPFIA4 mutation: A second hit in POLG related disease?
Sourbron J, Jansen K, Aerts N, Lagae L. Sourbron J, et al. Among authors: jansen k. Epilepsy Behav Rep. 2021 May 7;16:100455. doi: 10.1016/j.ebr.2021.100455. eCollection 2021. Epilepsy Behav Rep. 2021. PMID: 34095804 Free PMC article.
1,028 results