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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: smet j. 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.
Plasma C3d levels as a diagnostic marker for complete complement factor I deficiency.
Naesens L, Smet J, Tavernier SJ, Schelstraete P, Hoste L, Lambrecht S, Verhelst H, van der Werff Ten Bosch J, Ferster A, Blumental S, Hilbert P, Kerre T, Vande Walle J, Licht C, Roumenina LT, Stordeur P, Haerynck F. Naesens L, et al. Among authors: smet j. J Allergy Clin Immunol. 2021 Feb;147(2):749-753.e2. doi: 10.1016/j.jaci.2020.08.014. Epub 2020 Aug 24. J Allergy Clin Immunol. 2021. PMID: 32853637 No abstract available.
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations.
Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S; European Society for Immunodeficiencies Registry Working Party. Thalhammer J, et al. J Allergy Clin Immunol. 2021 Nov;148(5):1332-1341.e5. doi: 10.1016/j.jaci.2021.04.015. Epub 2021 Apr 23. J Allergy Clin Immunol. 2021. PMID: 33895260 Free article.
298 results