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A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.
Veldman A, Kiewiet MBG, Westra D, Bosch AM, Brands MMG, de Coo RIFM, Derks TGJ, Fuchs SA, van den Hout JMP, Huidekoper HH, Kluijtmans LAJ, Koop K, Lubout CMA, Mulder MF, Panis B, Rubio-Gozalbo ME, de Sain-van der Velden MG, Schaefers J, Schreuder AB, Visser G, Wevers RA, Wijburg FA, Heiner-Fokkema MR, van Spronsen FJ. Veldman A, et al. Among authors: westra d. Int J Neonatal Screen. 2023 Oct 11;9(4):56. doi: 10.3390/ijns9040056. Int J Neonatal Screen. 2023. PMID: 37873847 Free PMC article.
Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding.
Volokhina E, Westra D, Xue X, Gros P, van de Kar N, van den Heuvel L. Volokhina E, et al. Among authors: westra d. Pediatr Nephrol. 2012 Sep;27(9):1519-24. doi: 10.1007/s00467-012-2183-z. Epub 2012 Jun 6. Pediatr Nephrol. 2012. PMID: 22669319 Free PMC article.
109 results