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Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism.
Cheng Y, Schlosser P, Hertel J, Sekula P, Oefner PJ, Spiekerkoetter U, Mielke J, Freitag DF, Schmidts M; GCKD Investigators; Kronenberg F, Eckardt KU, Thiele I, Li Y, Köttgen A. Cheng Y, et al. Among authors: spiekerkoetter u. Nat Commun. 2021 Feb 11;12(1):964. doi: 10.1038/s41467-020-20877-8. Nat Commun. 2021. PMID: 33574263 Free PMC article.
Genomic newborn screening: Are we entering a new era of screening?
Spiekerkoetter U, Bick D, Scott R, Hopkins H, Krones T, Gross ES, Bonham JR. Spiekerkoetter U, et al. J Inherit Metab Dis. 2023 Sep;46(5):778-795. doi: 10.1002/jimd.12650. Epub 2023 Jul 17. J Inherit Metab Dis. 2023. PMID: 37403863 Review.
Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.
Li Y, Sekula P, Wuttke M, Wahrheit J, Hausknecht B, Schultheiss UT, Gronwald W, Schlosser P, Tucci S, Ekici AB, Spiekerkoetter U, Kronenberg F, Eckardt KU, Oefner PJ, Köttgen A; GCKD Investigators. Li Y, et al. Among authors: spiekerkoetter u. J Am Soc Nephrol. 2018 May;29(5):1513-1524. doi: 10.1681/ASN.2017101099. Epub 2018 Mar 15. J Am Soc Nephrol. 2018. PMID: 29545352 Free PMC article.
Author Correction: Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism.
Cheng Y, Schlosser P, Hertel J, Sekula P, Oefner PJ, Spiekerkoetter U, Mielke J, Freitag DF, Schmidts M; GCKD Investigators; Kronenberg F, Eckardt KU, Thiele I, Li Y, Köttgen A. Cheng Y, et al. Among authors: spiekerkoetter u. Nat Commun. 2021 Oct 6;12(1):5938. doi: 10.1038/s41467-021-26242-7. Nat Commun. 2021. PMID: 34615878 Free PMC article. No abstract available.
Citrin deficiency mimicking mitochondrial depletion syndrome.
Grünert SC, Schumann A, Freisinger P, Rosenbaum-Fabian S, Schmidts M, Mueller AJ, Beck-Wödl S, Haack TB, Schneider H, Fuchs H, Teufel U, Gramer G, Hannibal L, Spiekerkoetter U. Grünert SC, et al. Among authors: spiekerkoetter u. BMC Pediatr. 2020 Nov 11;20(1):518. doi: 10.1186/s12887-020-02409-x. BMC Pediatr. 2020. PMID: 33176737 Free PMC article.
123 results