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SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).
Lenz D, McClean P, Kansu A, Bonnen PE, Ranucci G, Thiel C, Straub BK, Harting I, Alhaddad B, Dimitrov B, Kotzaeridou U, Wenning D, Iorio R, Himes RW, Kuloğlu Z, Blakely EL, Taylor RW, Meitinger T, Kölker S, Prokisch H, Hoffmann GF, Haack TB, Staufner C. Lenz D, et al. Among authors: wenning d. Genet Med. 2018 Oct;20(10):1255-1265. doi: 10.1038/gim.2017.260. Epub 2018 Feb 8. Genet Med. 2018. PMID: 29419818 Free PMC article.
Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome.
Engelmann G, Meyburg J, Shahbek N, Al-Ali M, Hairetis MH, Baker AJ, Rodenburg RJ, Wenning D, Flechtenmacher C, Ellard S, Smeitink JA, Hoffmann GF, Buchanan CR. Engelmann G, et al. Among authors: wenning d. J Inherit Metab Dis. 2008 Aug;31(4):540-6. doi: 10.1007/s10545-008-0867-0. Epub 2008 Aug 16. J Inherit Metab Dis. 2008. PMID: 18704764
A new pediatric liver transplantation program in Southern Germany. The Heidelberg experience.
Engelmann G, Schmidt J, Weitz J, Flechtenmacher C, Schenk JP, Weigand MA, Lenhartz H, Wenning D, Holland-Cunz S, Hoffmann GF, Martin E, Büchler MW, Schmitt CP, Burdelski M, Meyburg J. Engelmann G, et al. Among authors: wenning d. Pediatr Transplant. 2010 Feb;14(1):12-8. doi: 10.1111/j.1399-3046.2009.01247.x. Epub 2009 Sep 28. Pediatr Transplant. 2010. PMID: 19793222
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
Dröge C, Bonus M, Baumann U, Klindt C, Lainka E, Kathemann S, Brinkert F, Grabhorn E, Pfister ED, Wenning D, Fichtner A, Gotthardt DN, Weiss KH, McKiernan P, Puri RD, Verma IC, Kluge S, Gohlke H, Schmitt L, Kubitz R, Häussinger D, Keitel V. Dröge C, et al. Among authors: wenning d. J Hepatol. 2017 Dec;67(6):1253-1264. doi: 10.1016/j.jhep.2017.07.004. Epub 2017 Jul 19. J Hepatol. 2017. PMID: 28733223
24 results