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N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
Park JH, Mealer RG, Elias AF, Hoffmann S, Grüneberg M, Biskup S, Fobker M, Haven J, Mangels U, Reunert J, Rust S, Schoof J, Schwanke C, Smoller JW, Cummings RD, Marquardt T. Park JH, et al. Among authors: schoof j. J Inherit Metab Dis. 2020 Nov;43(6):1370-1381. doi: 10.1002/jimd.12306. Epub 2020 Sep 14. J Inherit Metab Dis. 2020. PMID: 32852845 Free PMC article.
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
Friederich MW, Elias AF, Kuster A, Laugwitz L, Larson AA, Landry AP, Ellwood-Digel L, Mirsky DM, Dimmock D, Haven J, Jiang H, MacLean KN, Styren K, Schoof J, Goujon L, Lefrancois T, Friederich M, Coughlin CR 2nd, Banerjee R, Haack TB, Van Hove JLK. Friederich MW, et al. Among authors: schoof j. J Inherit Metab Dis. 2020 Sep;43(5):1024-1036. doi: 10.1002/jimd.12232. Epub 2020 Apr 15. J Inherit Metab Dis. 2020. PMID: 32160317 Free PMC article.
Live surgery in reconstructive urology: evaluation of the surgical outcome and educational benefit of the international meeting on reconstructive urology (IMORU).
Schuettfort VM, Schoof J, Rosenbaum CM, Ludwig TA, Vetterlein MW, Leyh-Bannurah SR, Maurer V, Meyer CP, Dahlem R, Fisch M, Reiss CP. Schuettfort VM, et al. Among authors: schoof j. World J Urol. 2019 Nov;37(11):2533-2539. doi: 10.1007/s00345-019-02666-1. Epub 2019 Feb 11. World J Urol. 2019. PMID: 30756150
32 results