Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Alexandra Ertl"'
Autor:
Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-19 (2023)
Abstract Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify t
Externí odkaz:
https://doaj.org/article/396b4128425f4efaa0a0c79776e03d51
Autor:
Diana-Alexandra Ertl, Justin Le Lorier, Andreas Gleiss, Séverine Trabado, Candace Bensignor, Christelle Audrain, Volha Zhukouskaya, Régis Coutant, Jugurtha Berkenou, Anya Rothenbuhler, Gabriele Haeusler, Agnès Linglart
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background X-linked hypophosphatemia (XLH) is characterized by increased serum concentrations of fibroblast growth factor 23 (FGF23), hypophosphatemia and insufficient endogenous synthesis of calcitriol. Beside rickets, odonto- and osteomala
Externí odkaz:
https://doaj.org/article/699a007222eb4987bb113e9ef42cf39a
Autor:
Ana Luisa Priego Zurita, Agnès Linglart, Inês Alves, Renata Simona Auriemma, Manila Boarini, Jillian Bryce, Luisa DeSanctis, Diana-Alexandra Ertl, Hoong-Wei Gan, Corinna Grasemann, Wolfgang Högler, M. Kassim Javaid, Klaus Mohnike, Marina Mordenti, Adalbert Raimann, Luca Sangiorgi, Marco Roos, Rebecca Skarberg, Ondrej Soucek, Judit Toke, Erica van den Akker, Almudena Vicente, Ahmed S. Faisal, Natasha Appelman-Dijkstra
Publikováno v:
Bone Reports, Vol 14, Iss , Pp 100849- (2021)
Externí odkaz:
https://doaj.org/article/5a07502701ed4f5b8c8c47da1b13c184
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100705- (2020)
Externí odkaz:
https://doaj.org/article/cf4dacd2fe3b49aba941902eb71d147e
Autor:
Diana-Alexandra Ertl, Andreas Gleiss, Katharina Schubert, Caroline Culen, Peer Hauck, Johannes Ott, Alois Gessl, Gabriele Haeusler
Publikováno v:
Endocrine Connections, Vol 7, Iss 4, Pp 1-10 (2018)
Background: Previous studies have shown that only a minority of patients with Turner syndrome (TS) have adequate medical care after transfer to adult care. Aim of this study: To assess the status of medical follow-up and quality of life (QoL) in adu
Externí odkaz:
https://doaj.org/article/255eafc95e8c4697ae6ada96bde8a547
Autor:
Caroline Culen, Diana-Alexandra Ertl, Katharina Schubert, Lisa Bartha-Doering, Gabriele Haeusler
Publikováno v:
Endocrine Connections, Vol 6, Iss 4, Pp R39-R51 (2017)
Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2500 female births. TS is characterized by distinctive physical features such as short stature, ovarian dysgene
Externí odkaz:
https://doaj.org/article/b5aca5591ed24b29bd7fc0a106ed3d51
Autor:
Diana-Alexandra Ertl
Publikováno v:
Journal für Klinische Endokrinologie und Stoffwechsel. 14:62-69
ZusammenfassungFast 80 Jahre nach der erstmaligen Beschreibung ist die Diagnose des Pseudohypoparathyreoidismus für viele Ärzte immer noch eine Herausforderung. Die Vielfalt der klinischen Merkmale und des Verlaufs macht die Diagnosestellung kompli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::935f5c0d0758131a8318c4aed822463f
https://doi.org/10.1007/s41969-021-00138-9
https://doi.org/10.1007/s41969-021-00138-9
Autor:
Diana Alexandra Ertl, Natasha M. Appelman-Dijkstra, M. Carola Zillikens, Lars Rjenmark, Elizabeth M. Winter
Publikováno v:
Endocrine
Appelman-Dijkstra, N M, Ertl, D A, Carola Zillikens, M, Rjenmark, L & Winter, E M 2021, ' Hypercalcemia during pregnancy : management and outcomes for mother and child ', Endocrine, vol. 71, no. 3, pp. 604-610 . https://doi.org/10.1007/s12020-021-02615-2
Endocrine, 71(3), 604-610. Humana Press
Endocrine, 71(3), 604-610. SPRINGER
Appelman-Dijkstra, N M, Ertl, D A, Carola Zillikens, M, Rjenmark, L & Winter, E M 2021, ' Hypercalcemia during pregnancy : management and outcomes for mother and child ', Endocrine, vol. 71, no. 3, pp. 604-610 . https://doi.org/10.1007/s12020-021-02615-2
Endocrine, 71(3), 604-610. Humana Press
Endocrine, 71(3), 604-610. SPRINGER
Diagnosing and treating hypercalcemia during pregnancy can be challenging due to both the physiological changes in calcium homeostasis and the underlying cause for the hypercalcemia. During pregnancy and lactation there is increased mobilization of c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d7b2fb7e85df7c3ca3901c756984ca0
http://europepmc.org/articles/PMC8016748
http://europepmc.org/articles/PMC8016748
Autor:
Luisa De Sanctis, Francesca Elli, Guiomar Perez de Nanclares, Agnès Linglart, Susanne Thiele, Patrick Hanna, Giovanna Mantovani, Arrate Pereda, Bruno Francou, Diana-Alexandra Ertl, Anya Rothenbuhler
Publikováno v:
European Journal of Endocrinology. 184:311-320
Objective Pseudohypoparathyroidism and related disorders belong to a group of heterogeneous rare diseases that share an impaired signaling downstream of Gsα-protein-coupled receptors. Affected patients may present with various combination of symptom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed366eeccbdb7c81d1ae32fe02f6f812
https://doi.org/10.1530/eje-20-0625
https://doi.org/10.1530/eje-20-0625
Publikováno v:
Wiener Medizinische Wochenschrift. 171:86-93
The heterogeneity of "rare bone disorders" can be explained by the number of molecules and regulatory pathways which are responsible for bone health and normal stature. In this article, the most important basic principles behind bone homeostasis from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::207aee1b3e888643df601abe39696bf5
https://doi.org/10.1007/s10354-020-00809-3
https://doi.org/10.1007/s10354-020-00809-3