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Page 1
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
Staufner C, Haack TB, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Lenz D, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Ozolek JA, Zschocke J, Kuster A, Dick A, Das AM, Wieland T, Terrile C, Strom TM, Meitinger T, Prokisch H, Hoffmann GF. Staufner C, et al. Among authors: straub bk. J Inherit Metab Dis. 2016 Jan;39(1):3-16. doi: 10.1007/s10545-015-9896-7. Epub 2015 Nov 5. J Inherit Metab Dis. 2016. PMID: 26541327
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Haack TB, Staufner C, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H. Haack TB, et al. Among authors: straub bk. Am J Hum Genet. 2015 Jul 2;97(1):163-9. doi: 10.1016/j.ajhg.2015.05.009. Epub 2015 Jun 11. Am J Hum Genet. 2015. PMID: 26073778 Free PMC article.
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
Staufner C, Lindner M, Dionisi-Vici C, Freisinger P, Dobbelaere D, Douillard C, Makhseed N, Straub BK, Kahrizi K, Ballhausen D, la Marca G, Kölker S, Haas D, Hoffmann GF, Grünert SC, Blom HJ. Staufner C, et al. Among authors: straub bk. J Inherit Metab Dis. 2016 Mar;39(2):273-83. doi: 10.1007/s10545-015-9904-y. Epub 2015 Dec 7. J Inherit Metab Dis. 2016. PMID: 26642971
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: straub bk. 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.
Application of patient-derived liver cancer cells for phenotypic characterization and therapeutic target identification.
Castven D, Becker D, Czauderna C, Wilhelm D, Andersen JB, Strand S, Hartmann M, Heilmann-Heimbach S, Roth W, Hartmann N, Straub BK, Mahn FL, Franck S, Pereira S, Haupts A, Vogel A, Wörns MA, Weinmann A, Heinrich S, Lang H, Thorgeirsson SS, Galle PR, Marquardt JU. Castven D, et al. Among authors: straub bk. Int J Cancer. 2019 Jun 1;144(11):2782-2794. doi: 10.1002/ijc.32026. Epub 2018 Dec 14. Int J Cancer. 2019. PMID: 30485423 Free article.
Clinical, histological and molecular profiling of different stages of alcohol-related liver disease.
Ventura-Cots M, Argemi J, Jones PD, Lackner C, El Hag M, Abraldes JG, Alvarado E, Clemente A, Ravi S, Alves A, Alboraie M, Altamirano J, Barace S, Bosques F, Brown R, Caballeria J, Cabezas J, Carvalhana S, Cortez-Pinto H, Costa A, Degré D, Fernandez-Carrillo C, Ganne-Carrie N, Garcia-Tsao G, Genesca J, Koskinas J, Lanthier N, Louvet A, Lozano JJ, Lucey MR, Masson S, Mathurin P, Mendez-Sanchez N, Miquel R, Moreno C, Mounajjed T, Odena G, Kim W, Sancho-Bru P, Warren Sands R, Szafranska J, Verset L, Schnabl B, Sempoux C, Shah V, Shawcross DL, Stauber RE, Straub BK, Verna E, Tiniakos D, Trépo E, Vargas V, Villanueva C, Woosley JT, Ziol M, Mueller S, Stärkel P, Bataller R. Ventura-Cots M, et al. Among authors: straub bk. Gut. 2022 Sep;71(9):1856-1866. doi: 10.1136/gutjnl-2021-324295. Epub 2022 Jan 6. Gut. 2022. PMID: 34992134 Free PMC article.
121 results