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Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.
Van Montfrans JM, Hartman EA, Braun KP, Hennekam EA, Hak EA, Nederkoorn PJ, Westendorp WF, Bredius RG, Kollen WJ, Schölvinck EH, Legger GE, Meyts I, Liston A, Lichtenbelt KD, Giltay JC, Van Haaften G, De Vries Simons GM, Leavis H, Sanders CJ, Bierings MB, Nierkens S, Van Gijn ME. Van Montfrans JM, et al. Among authors: hak ea. Rheumatology (Oxford). 2016 May;55(5):902-10. doi: 10.1093/rheumatology/kev439. Epub 2016 Feb 10. Rheumatology (Oxford). 2016. PMID: 26867732
Management of adult-onset Still's disease: evidence- and consensus-based recommendations by experts.
Leavis HL, van Daele PLA, Mulders-Manders C, Michels R, Rutgers A, Legger E, Bijl M, Hak EA, Lam-Tse WK, Bonte-Mineur F, Fretter P, Simon A, van Paassen P, van der Goes MC, Flendrie M, Vercoutere W, van Lieshout AWT, Leek A, Vastert SJ, Tas SW. Leavis HL, et al. Among authors: hak ea. Rheumatology (Oxford). 2024 May 3;63(6):1656-1663. doi: 10.1093/rheumatology/kead461. Rheumatology (Oxford). 2024. PMID: 37669122 Free PMC article.