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Page 1
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.
Meyburg J, Opladen T, Spiekerkötter U, Schlune A, Schenk JP, Schmidt J, Weitz J, Okun J, Bürger F, Omran TB, Abdoh G, Al Rifai H, Monavari A, Konstantopoulou V, Kölker S, Yudkoff M, Hoffmann GF. Meyburg J, et al. Among authors: schlune a. J Inherit Metab Dis. 2018 Jan;41(1):81-90. doi: 10.1007/s10545-017-0097-4. Epub 2017 Oct 12. J Inherit Metab Dis. 2018. PMID: 29027067 Clinical Trial.
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.
Kölker S, Boy SP, Heringer J, Müller E, Maier EM, Ensenauer R, Mühlhausen C, Schlune A, Greenberg CR, Koeller DM, Hoffmann GF, Haege G, Burgard P. Kölker S, et al. Among authors: schlune a. Mol Genet Metab. 2012 Sep;107(1-2):72-80. doi: 10.1016/j.ymgme.2012.03.021. Epub 2012 Apr 4. Mol Genet Metab. 2012. PMID: 22520952
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
Huemer M, Carvalho DR, Brum JM, Ünal Ö, Coskun T, Weisfeld-Adams JD, Schrager NL, Scholl-Bürgi S, Schlune A, Donner MG, Hersberger M, Gemperle C, Riesner B, Ulmer H, Häberle J, Karall D. Huemer M, et al. Among authors: schlune a. J Inherit Metab Dis. 2016 May;39(3):331-340. doi: 10.1007/s10545-016-9928-y. Epub 2016 Apr 1. J Inherit Metab Dis. 2016. PMID: 27038030
Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: A case-control study.
Gancheva S, Caspari D, Bierwagen A, Jelenik T, Caprio S, Santoro N, Rothe M, Markgraf DF, Herebian D, Hwang JH, Öner-Sieben S, Mennenga J, Pacini G, Thimm E, Schlune A, Meissner T, Vom Dahl S, Klee D, Mayatepek E, Roden M, Ensenauer R. Gancheva S, et al. Among authors: schlune a. J Inherit Metab Dis. 2020 Sep;43(5):981-993. doi: 10.1002/jimd.12231. Epub 2020 Apr 6. J Inherit Metab Dis. 2020. PMID: 32118306
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Grünert SC, Schmitt RN, Schlatter SM, Gemperle-Britschgi C, Balcı MC, Berg V, Çoker M, Das AM, Demirkol M, Derks TGJ, Gökçay G, Uçar SK, Konstantopoulou V, Christoph Korenke G, Lotz-Havla AS, Schlune A, Staufner C, Tran C, Visser G, Schwab KO, Fukao T, Sass JO. Grünert SC, et al. Among authors: schlune a. Mol Genet Metab. 2017 Sep;122(1-2):67-75. doi: 10.1016/j.ymgme.2017.06.012. Epub 2017 Jun 27. Mol Genet Metab. 2017. PMID: 28689740
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A. Stockler-Ipsiroglu S, et al. Among authors: schlune a. Mol Genet Metab. 2014 Jan;111(1):16-25. doi: 10.1016/j.ymgme.2013.10.018. Epub 2013 Nov 7. Mol Genet Metab. 2014. PMID: 24268530 Free article.
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
Huemer M, Bürer C, Ješina P, Kožich V, Landolt MA, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla AS, Noss J, Parini R, Peters H, Plecko B, Ramos FJ, Schlune A, Tsiakas K, Zerjav Tansek M, Baumgartner MR. Huemer M, et al. Among authors: schlune a. J Inherit Metab Dis. 2015 Sep;38(5):957-67. doi: 10.1007/s10545-014-9803-7. Epub 2014 Dec 20. J Inherit Metab Dis. 2015. PMID: 25526710 Free article.
Liver cirrhosis in glycogen storage disease Ib.
Baertling F, Mayatepek E, Gerner P, Baba HA, Franzel J, Schlune A, Meissner T. Baertling F, et al. Among authors: schlune a. Mol Genet Metab. 2013 Mar;108(3):198-200. doi: 10.1016/j.ymgme.2013.01.003. Epub 2013 Jan 11. Mol Genet Metab. 2013. PMID: 23357201
27 results