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Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions.
Vandevelde NM, Vermeersch P, Devreese KMJ, Vincent MF, Gulbis B, Eyskens F, Boemer F, Gothot A, Van Hoof VO, Bonroy C, Stepman H, Martens GA, Bossuyt X, Roosens L, Smet J, Laeremans H, Weets I, Minon JM, Vernelen K, Coucke W; Advisory Board of the Action 1 of the Belgian National Plan for Rare Diseases. Vandevelde NM, et al. Among authors: stepman h. Orphanet J Rare Dis. 2021 Feb 17;16(1):89. doi: 10.1186/s13023-021-01728-1. Orphanet J Rare Dis. 2021. PMID: 33596965 Free PMC article.
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.
Vantroys E, Smet J, Vanlander AV, Vergult S, De Bruyne R, Roels F, Stepman H, Roeyers H, Menten B, Van Coster R. Vantroys E, et al. Among authors: stepman h. Orphanet J Rare Dis. 2018 May 21;13(1):80. doi: 10.1186/s13023-018-0822-6. Orphanet J Rare Dis. 2018. PMID: 29783990 Free PMC article.
Longitudinal study of Pex1-G844D NMRI mouse model: A robust pre-clinical model for mild Zellweger spectrum disorder.
Demaret T, Roumain M, Ambroise J, Evraerts J, Ravau J, Bouzin C, Bearzatto B, Gala JL, Stepman H, Marie S, Vincent MF, Muccioli GG, Najimi M, Sokal EM. Demaret T, et al. Among authors: stepman h. Biochim Biophys Acta Mol Basis Dis. 2020 Nov 1;1866(11):165900. doi: 10.1016/j.bbadis.2020.165900. Epub 2020 Jul 18. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32693164 Free article.
22 results