Zobrazeno 1 - 10
of 234
pro vyhledávání: '"Wolfgang, Högler"'
Autor:
Priya S. Kishnani, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, Andrew Messali, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Wolfgang Högler, Lothar Seefried, Kathryn M. Dahir
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Hypophosphatasia (HPP) is a rare inherited disease caused by deficient activity of tissue-nonspecific alkaline phosphatase. Many adults with HPP have a high burden of disease, experiencing chronic pain, fatigue, limited mobility,
Externí odkaz:
https://doaj.org/article/37968c05241044a7ae66037fae804ebb
Autor:
Elizabeth Brettell, Wolfgang Högler, Rebecca Woolley, Carole Cummins, Jonathan Mathers, Raymond Oppong, Laura Roy, Adam Khan, Charmaine Hunt, Mehul Dattani, on behalf of the G. H. D. study group
Publikováno v:
Trials, Vol 24, Iss 1, Pp 1-13 (2023)
Abstract Background Growth hormone deficiency (GHD) is the commonest endocrine cause of short stature and may occur in isolation (I-GHD) or combined with other pituitary hormone deficiencies. Around 500 children are diagnosed with GHD every year in t
Externí odkaz:
https://doaj.org/article/8ada172fc2eb49b6b7ec575f2f0d355f
Autor:
Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Collection of real-world evidence (RWE) is important in achondroplasia. Development of a prospective, shared, international resource that follows the principles of findability, accessibility, interoperability, and reuse of digital
Externí odkaz:
https://doaj.org/article/ce49780aedce497cb9c4ad067e8be933
Autor:
Wolfgang Högler, Agnès Linglart, Anna Petryk, Priya S Kishnani, Lothar Seefried, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Kathryn Dahir, Gabriel Ángel Martos-Moreno
Publikováno v:
Endocrine Connections, Vol 12, Iss 5, Pp 1-12 (2023)
Objective: Hypophosphatasia, an inborn error of metabolism characterized by impaired bone mineralization, can affect growth. This study evaluated relationships between anthropometric parameters (height, weight, and body mass index) and clinical manif
Externí odkaz:
https://doaj.org/article/80b62c288c1647f39bc8c401348a6d16
Autor:
Ravi Savarirayan, Daniel G. Hoernschemeyer, Merete Ljungberg, Yuri A. Zarate, Carlos A. Bacino, Michael B. Bober, Janet M. Legare, Wolfgang Högler, Teresa Quattrin, M. Jennifer Abuzzahab, Paul L. Hofman, Klane K. White, Nina S. Ma, Dirk Schnabel, Sérgio B. Sousa, Meng Mao, Alden Smith, Mukta Chakraborty, Adebola Giwa, Bent Winding, Birgitte Volck, Aimee D. Shu, Ciara McDonnell
Publikováno v:
EClinicalMedicine, Vol 65, Iss , Pp 102258- (2023)
Summary: Background: TransCon CNP (navepegritide) is an investigational prodrug of C-type natriuretic peptide (CNP) designed to allow for continuous CNP exposure with once-weekly dosing. This 52-week phase 2 (ACcomplisH) trial assessed the safety and
Externí odkaz:
https://doaj.org/article/07498b64dfd0403e9988b282f640b406
Autor:
Ahmed El‐Gazzar, Barbara Voraberger, Frank Rauch, Mario Mairhofer, Katy Schmidt, Brecht Guillemyn, Goran Mitulović, Veronika Reiterer, Margot Haun, Michaela M Mayr, Johannes A Mayr, Susanne Kimeswenger, Oliver Drews, Vrinda Saraff, Nick Shaw, Nadja Fratzl‐Zelman, Sofie Symoens, Hesso Farhan, Wolfgang Högler
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 4, Pp 1-18 (2023)
Abstract Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder characterized by bone fragility and reduced bone mass generally caused by defects in type I collagen structure or defects in proteins interacting with collag
Externí odkaz:
https://doaj.org/article/603d086eb1764c1e9cd37e1a82cb581f
Autor:
Nasser M. Al-Daghri, Shaun Sabico, Kaiser Wani, Syed Danish Hussain, Sobhy Yakout, Naji Aljohani, Suma Uday, Wolfgang Högler
Publikováno v:
Frontiers in Nutrition, Vol 10 (2023)
BackgroundDietary intake is widely known to play a crucial role in achieving peak bone mass among children and adolescents. Unfortunately, this information is lacking among Arab adolescents, an understudied demographic that has recently been observed
Externí odkaz:
https://doaj.org/article/b23f655534194ae197ca0ae51f237e3e
Autor:
Kathryn M. Dahir, Lothar Seefried, Priya S. Kishnani, Anna Petryk, Wolfgang Högler, Agnès Linglart, Gabriel Ángel Martos-Moreno, Keiichi Ozono, Shona Fang, Cheryl Rockman-Greenberg
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background The clinical signs and symptoms of hypophosphatasia (HPP) can manifest during any stage of life. The age at which a patient’s symptoms are reported can impact access to targeted treatment with enzyme replacement therapy (asfotas
Externí odkaz:
https://doaj.org/article/3b71631dff824edd8fcf1b9f203f0927
Autor:
Barbara Voraberger, Johannes A. Mayr, Nadja Fratzl-Zelman, Stéphane Blouin, Suma Uday, Robert Kopajtich, Marijke Koedam, Helena Hödlmayr, Saskia B. Wortmann, Bernhard Csillag, Holger Prokisch, Bram C. J. van der Eerden, Ahmed El-Gazzar, Wolfgang Högler
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Bi-allelic variants in ASCC1 cause the ultrarare bone fragility disorder “spinal muscular atrophy with congenital bone fractures-2” (SMABF2). However, the mechanism by which ASCC1 dysfunction leads to this musculoskeletal condition and the nature
Externí odkaz:
https://doaj.org/article/4a17473717f247b2b3e96b896af55a6c
Autor:
Kathryn M. Dahir, Priya S. Kishnani, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, Cheryl Rockman-Greenberg, Samantha E. Martel, Keiichi Ozono, Wolfgang Högler, Lothar Seefried
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionHypophosphatasia (HPP) manifests in adults as fractures/pseudofractures, pain, muscle weakness, and other functional impairments. Better phenotypic disease characterization is needed to help recognize disability and treat patients with HP
Externí odkaz:
https://doaj.org/article/5e063fc646ab473a8ee30714e836a6df