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Page 1
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
Holder-Espinasse M, Marie S, Bourrouillou G, Ceballos-Picot I, Nassogne MC, Faivre L, Amiel J, Munnich A, Vincent MF, Cormier-Daire V. Holder-Espinasse M, et al. Among authors: vincent mf. J Med Genet. 2002 Jun;39(6):440-2. doi: 10.1136/jmg.39.6.440. J Med Genet. 2002. PMID: 12070256 Free PMC article. No abstract available.
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: vincent mf. 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.
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: vincent mf. 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.
Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression.
Janssens V, Gaide Chevronnay HP, Marie S, Vincent MF, Van Der Smissen P, Nevo N, Vainio S, Nielsen R, Christensen EI, Jouret F, Antignac C, Pierreux CE, Courtoy PJ. Janssens V, et al. Among authors: vincent mf. J Am Soc Nephrol. 2019 Nov;30(11):2177-2190. doi: 10.1681/ASN.2019040371. Epub 2019 Sep 23. J Am Soc Nephrol. 2019. PMID: 31548351 Free PMC article.
103 results