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PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
Pelet A, Skopova V, Steuerwald U, Baresova V, Zarhrate M, Plaza JM, Hnizda A, Krijt M, Souckova O, Wibrand F, Andorsdóttir G, Joensen F, Sedlak D, Bleyer AJ, Kmoch S, Lyonnet S, Zikanova M. Pelet A, et al. Among authors: steuerwald u. Hum Mol Genet. 2019 Nov 15;28(22):3805-3814. doi: 10.1093/hmg/ddz237. Hum Mol Genet. 2019. PMID: 31600779
Increased risk of sudden death in untreated primary carnitine deficiency.
Rasmussen J, Dunø M, Lund AM, Steuerwald U, Hansen SH, Joensen HD, Køber L, Nielsen OW. Rasmussen J, et al. Among authors: steuerwald u. J Inherit Metab Dis. 2020 Mar;43(2):290-296. doi: 10.1002/jimd.12158. Epub 2019 Dec 15. J Inherit Metab Dis. 2020. PMID: 31373028
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA. Carrozzo R, et al. Among authors: steuerwald u. Brain. 2007 Mar;130(Pt 3):862-74. doi: 10.1093/brain/awl389. Epub 2007 Feb 14. Brain. 2007. PMID: 17301081
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ, Steuerwald U, Beauchamp NJ, Taybert J, Laforêt P, Petit FM, Hubert A, Labrune P, Smit GPA, Derks TGJ. Sentner CP, et al. Among authors: steuerwald u. J Inherit Metab Dis. 2016 Sep;39(5):697-704. doi: 10.1007/s10545-016-9932-2. Epub 2016 Apr 22. J Inherit Metab Dis. 2016. PMID: 27106217 Free PMC article.
Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.
Kordes U, Richter A, Santer R, Schäfer H, Singer D, Sonntag J, Steuerwald U, Schneppenheim R, Janka G. Kordes U, et al. Among authors: steuerwald u. Pediatr Blood Cancer. 2010 May;54(5):758-60. doi: 10.1002/pbc.22390. Pediatr Blood Cancer. 2010. PMID: 20052779
UPLC-MS/MS analysis of C5-acylcarnitines in dried blood spots.
Janzen N, Steuerwald U, Sander S, Terhardt M, Peter M, Sander J. Janzen N, et al. Among authors: steuerwald u. Clin Chim Acta. 2013 Jun 5;421:41-5. doi: 10.1016/j.cca.2013.03.001. Epub 2013 Mar 13. Clin Chim Acta. 2013. PMID: 23499962
56 results