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15 results

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Page 1
Renal phenotyping in a hypomorphic murine model of propionic aciduria reveals common pathomechanisms in organic acidurias.
Schumann A, Martinez-Pizarro A, Richard E, Schell C, Kössinger AL, Zeyer KA, Tholen S, Schilling O, Barry M, Neubauer B, Köttgen M, Hannibal L, Desviat LR, Spiekerkötter U. Schumann A, et al. Among authors: spiekerkotter u. Sci Rep. 2024 Dec 16;14(1):30478. doi: 10.1038/s41598-024-79572-z. Sci Rep. 2024. PMID: 39681572 Free PMC article.
In Reply.
Spiekerkötter U. Spiekerkötter U. Dtsch Arztebl Int. 2023 Feb 3;120(5):67-68. doi: 10.3238/arztebl.m2022.0271. Dtsch Arztebl Int. 2023. PMID: 37005721 Free PMC article. No abstract available.
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
Grohmann-Held K, Burgard P, Baerwald CGO, Beblo S, Vom Dahl S, Das A, Dokoupil K, Fleissner S, Freisinger P, Heddrich-Ellerbrok M, Jung A, Korpel V, Krämer J, Lier D, Maier EM, Meyer U, Mühlhausen C, Newger M, Och U, Plöckinger U, Rosenbaum-Fabian S, Rutsch F, Santer R, Schick P, Schwarz M, Spiekerkötter U, Strittmatter U, Thiele AG, Ziagaki A, Mütze U, Gleich F, Garbade SF, Kölker S. Grohmann-Held K, et al. Among authors: spiekerkotter u. J Inherit Metab Dis. 2022 Nov;45(6):1070-1081. doi: 10.1002/jimd.12544. Epub 2022 Aug 22. J Inherit Metab Dis. 2022. PMID: 36054426
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: spiekerkotter u. 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.
Recommendations for the management of tyrosinaemia type 1.
de Laet C, Dionisi-Vici C, Leonard JV, McKiernan P, Mitchell G, Monti L, de Baulny HO, Pintos-Morell G, Spiekerkötter U. de Laet C, et al. Among authors: spiekerkotter u. Orphanet J Rare Dis. 2013 Jan 11;8:8. doi: 10.1186/1750-1172-8-8. Orphanet J Rare Dis. 2013. PMID: 23311542 Free PMC article. Review.
Diagnosis of glutathione synthetase deficiency in newborn screening.
Simon E, Vogel M, Fingerhut R, Ristoff E, Mayatepek E, Spiekerkötter U. Simon E, et al. Among authors: spiekerkotter u. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S269-72. doi: 10.1007/s10545-009-1213-x. Epub 2009 Sep 2. J Inherit Metab Dis. 2009. PMID: 19728142
Liquid chromatography tandem mass spectrometry method for the quantitation of NTBC (2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione) in plasma of tyrosinemia type 1 patients.
Herebian D, Spiekerkötter U, Lamshöft M, Thimm E, Laryea M, Mayatepek E. Herebian D, et al. Among authors: spiekerkotter u. J Chromatogr B Analyt Technol Biomed Life Sci. 2009 May 15;877(14-15):1453-9. doi: 10.1016/j.jchromb.2009.03.014. Epub 2009 Mar 17. J Chromatogr B Analyt Technol Biomed Life Sci. 2009. PMID: 19345648
Cystic renal dysplasia as a leading sign of inherited metabolic disease.
Distelmaier F, Vogel M, Spiekerkötter U, Gempel K, Klee D, Braunstein S, Groneck HP, Mayatepek E, Wendel U, Schwahn B. Distelmaier F, et al. Among authors: spiekerkotter u. Pediatr Nephrol. 2007 Dec;22(12):2119-24. doi: 10.1007/s00467-007-0536-9. Epub 2007 Jul 19. Pediatr Nephrol. 2007. PMID: 17638024
15 results