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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: till c. 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
d-Glycerate kinase deficiency in a neuropediatric patient.
Sass JO, Behringer S, Fernando M, Cesaroni E, Cursio I, Volpini A, Till C. Sass JO, et al. Among authors: till c. Brain Dev. 2020 Feb;42(2):226-230. doi: 10.1016/j.braindev.2019.11.008. Epub 2019 Dec 11. Brain Dev. 2020. PMID: 31837836
Erratum to Iodine status in a large Canadian pregnancy cohort. American Journal of Obstetrics & Gynecology MFM. Volume 5, Issue 1, January 2023, 100784.
Krzeczkowski JE, Hall M, McGuckin T, Lanphear B, Bertinato J, Ayotte P, Chevrier J, Goodman C, Green R, Till C. Krzeczkowski JE, et al. Among authors: till c. Am J Obstet Gynecol MFM. 2024 Apr 10:101208. doi: 10.1016/j.ajogmf.2023.101208. Online ahead of print. Am J Obstet Gynecol MFM. 2024. PMID: 38604925 No abstract available.
180 results