Zobrazeno 1 - 10
of 143
pro vyhledávání: '"Markus Bettendorf"'
Publikováno v:
Endocrinology, Diabetes & Metabolism, Vol 7, Iss 4, Pp n/a-n/a (2024)
ABSTRACT Objective During the process of transition from paediatric to adult health care, counselling concerning fertility is an important issue and is based mainly on serum markers of gonadal function. Here, we analysed these markers in adolescents
Externí odkaz:
https://doaj.org/article/71f471b7f41b43f299d99fe5a09a4795
Autor:
Maria Krivega, Jutta Zimmer, Anna Slezko, Petra Frank-Herrmann, Julia Rehnitz, Markus Hohenfellner, Markus Bettendorf, Marcin Luzarowski, Thomas Strowitzki
Publikováno v:
Cell Death Discovery, Vol 9, Iss 1, Pp 1-14 (2023)
Abstract The ability to transmit genetic information through generations depends on the preservation of genome integrity. Genetic abnormalities affect cell differentiation, causing tissue specification defects and cancer. We addressed genomic instabi
Externí odkaz:
https://doaj.org/article/1033579df5ea4210ac542748da937bcf
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-6 (2022)
Abstract Background Iatrogenic Cushing’s syndrome induced by oral and parenteral glucocorticoid administration is a well-known complication. Immediate withdrawal from exogenous steroids can lead to life-threatening adrenal insufficiency. However, C
Externí odkaz:
https://doaj.org/article/caee852119ea49589d789504de51557b
Autor:
Daniela Choukair, Fabian Hauck, Markus Bettendorf, Heiko Krude, Christoph Klein, Tobias Bäumer, Reinhard Berner, Min Ae Lee-Kirsch, Corinna Grasemann, Peter Burgard, Georg F. Hoffmann
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
Abstract Background Diagnosis, treatment, and care of patients with rare diseases require multidisciplinary cooperation between medical and paramedical specialities and with patients and families. Innovative genetic diagnostics, whole exome and whole
Externí odkaz:
https://doaj.org/article/87d0b039802740118b8a8dc67a58c094
Autor:
Heike Hoyer-Kuhn, Angela Huebner, Anette Richter-Unruh, Markus Bettendorf, Tilman Rohrer, Klaus Kapelari, Stefan Riedl, Klaus Mohnike, Helmuth-Günther Dörr, Friedrich-Wilhelm Roehl, Katharina Fink, Reinhard W Holl, Joachim Woelfle
Publikováno v:
Endocrine Connections, Vol 10, Iss 5, Pp 561-569 (2021)
Objective: Treatment of classic congenital adrenal hyperplasia (CAH) is necessary to compensate for glucocorticoid/mineralocorticoid deficiencies and to suppress androgen excess. Hydrocortisone (HC) is preferred in growing children with classic CAH b
Externí odkaz:
https://doaj.org/article/8df44d6c4b764632b81748064f355400
Autor:
Vira Yakovenko, Laura Henn, Markus Bettendorf, Natalia Zelinska, Galyna Soloviova, Georg F. Hoffmann, Juergen Grulich-Henn
Publikováno v:
JCRPE, Vol 11, Iss 3, Pp 247-252 (2019)
Objective:The prevalence of overweight and obesity in childhood and adolescence are rapidly increasing and influenced by genetic, familial, environmental, socioeconomic and cultural factors. The aim of the study was to compare risk factors for childh
Externí odkaz:
https://doaj.org/article/aee5ea0643b248d3a984274724a4e3a3
Autor:
Stefan Riedl, Friedrich-Wilhelm Röhl, Walter Bonfig, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Markus Bettendorf, Felix Riepe, Gernot Kriegshäuser, Eckhard Schönau, Gertrud Even, Berthold Hauffa, Helmuth-Günther Dörr, Reinhard W Holl, Klaus Mohnike
Publikováno v:
Endocrine Connections, Vol 8, Iss 2, Pp 86-94 (2019)
Congenital adrenal hyperplasia (CAH) due to CYP21A2 gene mutations is associated with a variety of clinical phenotypes (salt wasting, SW; simple virilizing, SV; nonclassical, NC) depending on residual 21-hydroxylase activity. Phenotypes and genotypes
Externí odkaz:
https://doaj.org/article/68ef31c9b5c04841b2e269eae98fe5ce
Autor:
Philipp Vick, Birgit Eberle, Daniela Choukair, Birgit Weiss, Ralph Roeth, Isabelle Schneider, Nagarajan Paramasivam, Markus Bettendorf, Gudrun A. Rappold
Publikováno v:
Genes, Vol 12, Iss 12, p 1862 (2021)
Congenital primary hypothyroidism (CH; OMIM 218700) is characterized by an impaired thyroid development, or dyshormonogenesis, and can lead to intellectual disability and growth retardation if untreated. Most of the children with congenital hypothyro
Externí odkaz:
https://doaj.org/article/cf6dbcf4ce584539964595c0f5444117
Autor:
Julia Quitmann, Janika Bloemeke, Neuza Silva, Monika Bullinger, Stefanie Witt, Ilker Akkurt, Desiree Dunstheimer, Christian Vogel, Volker Böttcher, Ursula Kuhnle Krahl, Markus Bettendorf, Eckhard Schönau, Susanne Fricke-Otto, Alexandra Keller, Klaus Mohnike, Helmuth-Günther Dörr
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Aside from clinical endpoints like height gain, health-related quality of life has also become an important outcome indicator in the medical field. However, the data on short stature and health-related quality of life is inconsistent. Therefore, we e
Externí odkaz:
https://doaj.org/article/cb362cac78f54cf7a52805cc392c3141
Autor:
Julia Thomann, Sascha R. Tittel, Egbert Voss, Rudolf Oeverink, Katja Palm, Susanne Fricke-Otto, Klaus Kapelari, Reinhard W. Holl, Joachim Woelfle, Markus Bettendorf
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 1, p 10 (2021)
Neonatal screening for congenital primary hypothyroidism (CH) is mandatory in Germany but medical care thereafter remains inconsistent. Therefore, the registry HypoDok of the German Society of Pediatric Endocrinology and Diabetology (DGKED) was analy
Externí odkaz:
https://doaj.org/article/c56d350f3e6c4f06b11e06020d8aa134