Steuerwald U - Search Results

1

Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands.

Rasmussen J, Nielsen OW, Janzen N, Duno M, Gislason H, Køber L, Steuerwald U, Lund AM. Rasmussen J, et al. Among authors: steuerwald u. J Inherit Metab Dis. 2014 Mar;37(2):215-22. doi: 10.1007/s10545-013-9606-2. Epub 2013 May 8. J Inherit Metab Dis. 2014. PMID: 23653224

2

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

3

Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?

Rasmussen J, Hougaard DM, Sandhu N, Fjællegaard K, Petersen PR, Steuerwald U, Lund AM. Rasmussen J, et al. Among authors: steuerwald u. JIMD Rep. 2017;36:35-40. doi: 10.1007/8904_2016_30. Epub 2017 Jan 20. JIMD Rep. 2017. PMID: 28105570 Free PMC article.

4

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

5

Rapid steroid hormone quantification for congenital adrenal hyperplasia (CAH) in dried blood spots using UPLC liquid chromatography-tandem mass spectrometry.

Janzen N, Sander S, Terhardt M, Steuerwald U, Peter M, Das AM, Sander J. Janzen N, et al. Among authors: steuerwald u. Steroids. 2011 Dec 11;76(13):1437-42. doi: 10.1016/j.steroids.2011.07.013. Epub 2011 Aug 2. Steroids. 2011. PMID: 21839763

6

Neonatal screening for defects of the mitochondrial trifunctional protein.

Sander J, Sander S, Steuerwald U, Janzen N, Peter M, Wanders RJ, Marquardt I, Korenke GC, Das AM. Sander J, et al. Among authors: steuerwald u. Mol Genet Metab. 2005 Jun;85(2):108-14. doi: 10.1016/j.ymgme.2005.02.002. Epub 2005 Mar 24. Mol Genet Metab. 2005. PMID: 15896654

7

Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone.

Sander J, Janzen N, Peter M, Sander S, Steuerwald U, Holtkamp U, Schwahn B, Mayatepek E, Trefz FK, Das AM. Sander J, et al. Among authors: steuerwald u. Clin Chem. 2006 Mar;52(3):482-7. doi: 10.1373/clinchem.2005.059790. Epub 2006 Jan 26. Clin Chem. 2006. PMID: 16439608

8

EDTA in dried blood spots leads to false results in neonatal endocrinologic screening.

Holtkamp U, Klein J, Sander J, Peter M, Janzen N, Steuerwald U, Blankenstein O. Holtkamp U, et al. Among authors: steuerwald u. Clin Chem. 2008 Mar;54(3):602-5. doi: 10.1373/clinchem.2007.096685. Clin Chem. 2008. PMID: 18310148

9

Neonatal screening: identification of children with 11β-hydroxylase deficiency by second-tier testing.

Janzen N, Riepe FG, Peter M, Sander S, Steuerwald U, Korsch E, Krull F, Müller HL, Heger S, Brack C, Sander J. Janzen N, et al. Among authors: steuerwald u. Horm Res Paediatr. 2012;77(3):195-9. doi: 10.1159/000337974. Epub 2012 Apr 13. Horm Res Paediatr. 2012. PMID: 22508345

10

Application of a second-tier newborn screening assay for c5 isoforms.

Cloppenborg T, Janzen N, Wagner H, Steuerwald U, Peter M, Das A. Cloppenborg T, et al. Among authors: steuerwald u. JIMD Rep. 2014;13:23-6. doi: 10.1007/8904_2013_275. Epub 2013 Nov 6. JIMD Rep. 2014. PMID: 24193437 Free PMC article.

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