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Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, Alfadhel M, Barić I, Çoker M, Damli-Huber A, Faqeih EA, García Segarra N, Geraghty MT, Jåtun BM, Kalkan Uçar S, Kriewitz M, Rauchenzauner M, Bilić K, Tournev I, Till C, Sayson B, Beumer D, Ye CX, Zhang LH, Vallance H, Alkuraya FS, van Karnebeek CD. Sass JO, et al. Among authors: kalkan ucar s. Mol Genet Metab. 2016 Sep;119(1-2):44-9. doi: 10.1016/j.ymgme.2016.07.008. Epub 2016 Jul 22. Mol Genet Metab. 2016. PMID: 27477828
From rodent heart to inborn errors of human metabolism.
Sass JO, Kalkan Uçar S, van Karnebeek CDM. Sass JO, et al. Among authors: kalkan ucar s. Mol Genet Metab. 2018 Mar;123(3):287-288. doi: 10.1016/j.ymgme.2018.02.001. Epub 2018 Feb 5. Mol Genet Metab. 2018. PMID: 29429868 No abstract available.
Insulin resistance in children with familial hyperlipidemia.
Terlemez S, Bozdemir E, Kalkan Uçar S, Kabaroğlu C, Habif S, Kayıkçıoğlu M, Çoker M. Terlemez S, et al. Among authors: kalkan ucar s. J Pediatr Endocrinol Metab. 2018 Dec 19;31(12):1349-1354. doi: 10.1515/jpem-2018-0337. J Pediatr Endocrinol Metab. 2018. PMID: 30433876
34 results