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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: rauchenzauner m. 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
Pediatric Maxillary Osteomyelitis: A Case Report of a Rare Entity.
Wehl G, Zimmermann V, Meyer T, Beinborn W, Gaumann A, Rauchenzauner M. Wehl G, et al. Among authors: rauchenzauner m. J Clin Pediatr Dent. 2019;43(3):196-200. doi: 10.17796/1053-4625-43.3.9. J Clin Pediatr Dent. 2019. PMID: 31034346 Free article.
Successful Treatment of Pediatric Inflammatory Multisystem Syndrome Temporally Associated with COVID-19 (PIMS-TS) with Split Doses of Immunoglobulin G and Estimation of PIMS-TS Incidence in a County District in Southern Germany.
Wehl G, Franke J, Frühwirth M, Edlinger M, Rauchenzauner M. Wehl G, et al. Among authors: rauchenzauner m. Healthcare (Basel). 2021 Apr 18;9(4):481. doi: 10.3390/healthcare9040481. Healthcare (Basel). 2021. PMID: 33919536 Free PMC article.
70 results