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Loss of enteroendocrine cells in autoimmune-polyendocrine-candidiasis-ectodermal-dystrophy (APECED) syndrome with gastrointestinal dysfunction.
Posovszky C, Lahr G, von Schnurbein J, Buderus S, Findeisen A, Schröder C, Schütz C, Schulz A, Debatin KM, Wabitsch M, Barth TF. Posovszky C, et al. Among authors: von schnurbein j. J Clin Endocrinol Metab. 2012 Feb;97(2):E292-300. doi: 10.1210/jc.2011-2044. Epub 2011 Dec 7. J Clin Endocrinol Metab. 2012. PMID: 22162465
Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28-29 September 2023.
Ceccarini G, Akinci B, Araujo-Vilar D, Beghini M, Brown RJ, Carrion Tudela J, Corradin V, Donadille B, Jerez Ruiz J, Jeru I, Lattanzi G, Maffei M, McIlroy GD, Nobécourt E, Perez de Tudela N, Rochford JJ, Sanders R, von Schnurbein J, Tews D, Vantyghem MC, Vatier C, Vigouroux C, Santini F. Ceccarini G, et al. Among authors: von schnurbein j. Ann Endocrinol (Paris). 2024 Jul;85(4):308-316. doi: 10.1016/j.ando.2024.03.002. Epub 2024 Mar 5. Ann Endocrinol (Paris). 2024. PMID: 38452868
Central hypothyroidism due to malnutrition in a 6-year old girl.
Schmidt NC, Kölch M, von Schnurbein J, Pfalzer AK, Cario H, Debatin KM, Wabitsch M. Schmidt NC, et al. Among authors: von schnurbein j. Klin Padiatr. 2010 Sep;222(5):315-6. doi: 10.1055/s-0030-1249062. Epub 2010 Mar 22. Klin Padiatr. 2010. PMID: 20309788 No abstract available.
A new missense mutation in the leptin gene causes mild obesity and hypogonadism without affecting T cell responsiveness.
Fischer-Posovszky P, von Schnurbein J, Moepps B, Lahr G, Strauss G, Barth TF, Kassubek J, Mühleder H, Möller P, Debatin KM, Gierschik P, Wabitsch M. Fischer-Posovszky P, et al. Among authors: von schnurbein j. J Clin Endocrinol Metab. 2010 Jun;95(6):2836-40. doi: 10.1210/jc.2009-2466. Epub 2010 Apr 9. J Clin Endocrinol Metab. 2010. PMID: 20382689
Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene.
Wabitsch M, Funcke JB, von Schnurbein J, Denzer F, Lahr G, Mazen I, El-Gammal M, Denzer C, Moss A, Debatin KM, Gierschik P, Mistry V, Keogh JM, Farooqi IS, Moepps B, Fischer-Posovszky P. Wabitsch M, et al. Among authors: von schnurbein j. J Clin Endocrinol Metab. 2015 Sep;100(9):3227-30. doi: 10.1210/jc.2015-2263. Epub 2015 Jul 17. J Clin Endocrinol Metab. 2015. PMID: 26186301 Free PMC article.
48 results