Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Clemens Freiberg"'
Autor:
Alena Welters, Oliver Nortmann, Laura Wörmeyer, Clemens Freiberg, Daniel Eberhard, Nadine Bachmann, Carsten Bergmann, Ertan Mayatepek, Thomas Meissner, Sebastian Kummer
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 2, p 1270 (2024)
The BiP co-chaperone DNAJC3 protects cells during ER stress. In mice, the deficiency of DNAJC3 leads to beta-cell apoptosis and the gradual onset of hyperglycemia. In humans, biallelic DNAJC3 variants cause a multisystem disease, including early-onse
Externí odkaz:
https://doaj.org/article/002ad8332aca42f882b49a9d746753ad
Autor:
Alena Welters, Thomas Meissner, Katja Konrad, Clemens Freiberg, Katharina Warncke, Sylvia Judmaier, Olga Kordonouri, Michael Wurm, Matthias Papsch, Gisela Fitzke, Silke Christina Schmidt, Sascha R. Tittel, Reinhard W. Holl
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
Abstract Background Wolcott-Rallison syndrome (WRS) is characterized by permanent early-onset diabetes, skeletal dysplasia and several additional features, e.g. recurrent liver failure. This is the first multicentre approach that focuses on diabetes
Externí odkaz:
https://doaj.org/article/2af6014f09f5418a8776f23448a7b0e7
Deficient knowledge in adult Turner syndrome care as an incentive to found Turner centers in Germany
Autor:
Elin Kahlert, Martina Blaschke, Knut Brockmann, Clemens Freiberg, Onno E Janssen, Nikolaus Stahnke, Domenika Strik, Martin Merkel, Alexander Mann, Klaus-Peter Liesenkötter, Heide Siggelkow
Publikováno v:
Endocrine Connections, Vol 8, Iss 11, Pp 1483-1492 (2019)
Objective: Turner syndrome (TS) is characterized by the complete or partial loss of the second sex chromosome and associated with a wide range of clinical manifestations. We aimed to assess the medical care of adult patients with TS in Germany. Desig
Externí odkaz:
https://doaj.org/article/48c85166dcc94dfb82113083b0e97e90
Autor:
Beate Karges, Sascha R Tittel, Alexander Bey, Clemens Freiberg, Christof Klinkert, Olga Kordonouri, Susanne Thiele-Schmitz, Carmen Schröder, Claudia Steigleder-Schweiger, Reinhard W Holl
Publikováno v:
The Lancet Diabetes & Endocrinology. 11:314-323
Autor:
Annika Ewert, Mirko Rehberg, Karl Peter Schlingmann, Olaf Hiort, Ulrike John-Kroegel, Oliver Metzing, Elke Wühl, Franz Schaefer, Markus J Kemper, Ute Derichs, Annette Richter-Unruh, Ludwig Patzer, Norbert Albers, Desiree Dunstheimer, Holger Haberland, Sabine Heger, Carmen Schröder, Norbert Jorch, Elmar Schmid, Hagen Staude, Marcus Weitz, Clemens Freiberg, Maren Leifheit-Nestler, Miroslav Zivicnjak, Dirk Schnabel, Dieter Haffner
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism.
Context Burosumab has been approved for the treatment of children and adults with X-linked hypophosphatemia (XLH). Real-world data and evidence for its efficacy in adolescents are lacking. Objective To assess the effects of 12 months of burosumab tre
Autor:
Alena Welters, Sascha R. Tittel, Thomas Reinehr, Daniel Weghuber, Susanna Wiegand, Wolfram Karges, Clemens Freiberg, Thomas Meissner, Nanette C. Schloot, Reinhard W. Holl
Publikováno v:
Pediatric diabetes 23(8), 1602-1612 (2022). doi:10.1111/pedi.13450
Pediatric diabetes 23(8), 1602-1612 (2022). doi:10.1111/pedi.13450
Published by Wiley-Blackwell, Oxford [u.a.]
Published by Wiley-Blackwell, Oxford [u.a.]
Autor:
Dirk Agena, Reinhard W. Holl, Kerstin Placzeck, Angelika Thon, Bettina Heidtmann, Bernd Schenk, Dpv Initiative, Julia M. Hermann, Thomas Kapellen, Birgit Rami-Merhar, Clemens Freiberg, Thomas Danne, Johannes Wolf, Martin Tauschmann, Matthias Papsch
Publikováno v:
Diabetes Care. 43:e40-e42
Use of continuous glucose monitoring (CGM) systems has become standard of care in type 1 diabetes (T1D) in many countries, particularly in children and adolescents (1,2). Results from clinical trials indicate that use of CGM leads to improved metabol
Autor:
Clemens Freiberg, Isabel Mönig, Ralf Lünstedt, Ulla Döhnert, Alexandra Kulle, Olaf Hiort, Annette Richter-Unruh, Lutz Wünsch, Julia August, Ralf Werner, Benedikt Reiz, Christoph Thorns, Stefan A. Wudy, Paul-Martin Holterhus
Publikováno v:
Sexual Development. 9:260-268
The differential diagnosis of 46,XY disorders of sex development (DSD) is based on the distinction between forms of gonadal dysgenesis and disorders of androgen biosynthesis and action. However, clinical and endocrine evaluations are often not conclu
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Autor:
Samuel Refetoff, Pia Hermanns, Clemens Freiberg, Helmuth-Günther Dörr, Ronald N. Cohen, Joachim Pohlenz, Helmut Grasberger
Publikováno v:
Thyroid. 23:791-796
Mutations in PAX8, a transcription factor gene, cause thyroid dysgenesis (TD). The extreme variability of the thyroid phenotype makes it difficult to identify individuals harboring PAX8 gene mutations. Here we describe two patients with TD and report