Welzel M - Search Results

1

17α-hydroxylase deficiency diagnosed in early infancy caused by a novel mutation of the CYP17A1 gene.

Petri C, Wudy SA, Riepe FG, Holterhus PM, Siegel J, Hartmann MF, Kulle AE, Welzel M, Grötzinger J, Schild RL, Heger S. Petri C, et al. Among authors: welzel m. Horm Res Paediatr. 2014;81(5):350-5. doi: 10.1159/000357065. Epub 2014 Apr 4. Horm Res Paediatr. 2014. PMID: 24714196

2

The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development.

Yüksel B, Kulle AE, Gürbüz F, Welzel M, Kotan D, Mengen E, Holterhus PM, Topaloğlu AK, Grötzinger J, Riepe FG. Yüksel B, et al. Among authors: welzel m. Horm Res Paediatr. 2013;80(3):163-9. doi: 10.1159/000354086. Epub 2013 Aug 1. Horm Res Paediatr. 2013. PMID: 23920000 Clinical Trial.

3

Implementation of a liquid chromatography tandem mass spectrometry assay for eight adrenal C-21 steroids and pediatric reference data.

Kulle AE, Welzel M, Holterhus PM, Riepe FG. Kulle AE, et al. Among authors: welzel m. Horm Res Paediatr. 2013;79(1):22-31. doi: 10.1159/000346406. Epub 2013 Jan 17. Horm Res Paediatr. 2013. PMID: 23328487

4

Principles and clinical applications of liquid chromatography - tandem mass spectrometry for the determination of adrenal and gonadal steroid hormones.

Kulle AE, Welzel M, Holterhus PM, Riepe FG. Kulle AE, et al. Among authors: welzel m. J Endocrinol Invest. 2011 Oct;34(9):702-8. doi: 10.3275/7843. Epub 2011 Jul 5. J Endocrinol Invest. 2011. PMID: 21738000 Review.

5

A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report.

Splittstösser V, Schreiner F, Gohlke B, Welzel M, Holterhus PM, Woelfle J. Splittstösser V, et al. Among authors: welzel m. BMC Endocr Disord. 2019 Oct 30;19(1):116. doi: 10.1186/s12902-019-0448-2. BMC Endocr Disord. 2019. PMID: 31666050 Free PMC article.

6

Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.

Welzel M, Wüstemann N, Simic-Schleicher G, Dörr HG, Schulze E, Shaikh G, Clayton P, Grötzinger J, Holterhus PM, Riepe FG. Welzel M, et al. J Clin Endocrinol Metab. 2008 Apr;93(4):1418-25. doi: 10.1210/jc.2007-1874. Epub 2008 Feb 5. J Clin Endocrinol Metab. 2008. PMID: 18252794

7

Steroid hormone profiles in prepubertal obese children before and after weight loss.

Reinehr T, Kulle A, Wolters B, Lass N, Welzel M, Riepe F, Holterhus PM. Reinehr T, et al. Among authors: welzel m. J Clin Endocrinol Metab. 2013 Jun;98(6):E1022-30. doi: 10.1210/jc.2013-1173. Epub 2013 May 23. J Clin Endocrinol Metab. 2013. PMID: 23703723

8

The Aldosterone/Renin Ratio as a Diagnostic Tool for the Diagnosis of Primary Hypoaldosteronism in Newborns and Infants.

Ruecker B, Lang-Muritano M, Spanaus K, Welzel M, l'Allemand D, Phan-Hug F, Katschnig C, Konrad D, Holterhus PM, Schoenle EJ. Ruecker B, et al. Among authors: welzel m. Horm Res Paediatr. 2015;84(1):43-8. doi: 10.1159/000381852. Epub 2015 May 9. Horm Res Paediatr. 2015. PMID: 25968592 Free article.

9

Transcriptional response of peripheral blood mononuclear cells to recombinant human growth hormone in a routine four-days IGF-I generation test.

Welzel M, Appari M, Bramswig N, Riepe FG, Holterhus PM. Welzel M, et al. Growth Horm IGF Res. 2011 Dec;21(6):336-42. doi: 10.1016/j.ghir.2011.09.001. Epub 2011 Oct 4. Growth Horm IGF Res. 2011. PMID: 21975122

10

Relationships between 24-hour urinary free cortisol concentrations and metabolic syndrome in obese children.

Reinehr T, Kulle A, Wolters B, Knop C, Lass N, Welzel M, Holterhus PM. Reinehr T, et al. Among authors: welzel m. J Clin Endocrinol Metab. 2014 Jul;99(7):2391-9. doi: 10.1210/jc.2013-4398. Epub 2014 Mar 26. J Clin Endocrinol Metab. 2014. PMID: 24670085

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