Zobrazeno 1 - 10
of 516
pro vyhledávání: '"Ola, Nilsson"'
Autor:
Annemieke M. Boot, Gema Ariceta, Signe Sparre Beck-Nielsen, Maria Luisa Brandi, Karine Briot, Carmen de Lucas Collantes, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, M. Zulf Mughal, Outi Mӓkitie, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, M. Carola Zillikens, Jonathan Liu, Alina Tudor, Francesco Emma
Publikováno v:
Therapeutic Advances in Chronic Disease, Vol 15 (2024)
Background: X-linked hypophosphatemia (XLH) is a rare, progressive disorder characterized by excess fibroblast growth factor 23 (FGF23), causing renal phosphate-wasting and impaired active vitamin D synthesis. Burosumab is a recombinant human monoclo
Externí odkaz:
https://doaj.org/article/ad24bc6611d64fadbf932d2c17d3938c
Autor:
Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M. Boot, Maria Luisa Brandi, Karine Briot, Carmen de Lucas Collantes, Francesco Emma, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, Outi Mӓkitie, M. Zulf Mughal, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, Jonathan Liu, Angela Williams, Sue Wood, M. Carola Zillikens
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-17 (2023)
Abstract Background X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological increase in FGF23 concentration and activity. Due to its rarity, diagnosis may be delayed, which
Externí odkaz:
https://doaj.org/article/388123ab12ae45a9a9fad4c55b77739a
Autor:
Sinan Karakaya, Lisa Gunnesson, Erik Elias, Paula Martos-Salvo, Mercedes Robledo, Ola Nilsson, Bo Wängberg, Frida Abel, Sven Påhlman, Andreas Muth, Sofie Mohlin
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumors. PGLs can further be divided into sympathetic (sPGLs) and head-and-neck (HN-PGLs). There are virtually no treatment options, and no cure, for metastatic PCCs a
Externí odkaz:
https://doaj.org/article/bab3867431174edda96dfadd196f72e5
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:
Maximilian Kordes, Sofia Berglund, Ola Nilsson, Jeffrey Yachnin, Maziar Nikberg, Abbas Chabok, Erwan Le Maître, Anne-Laure Joly, Luigi Notari, Guro Gafvelin, Hans Grönlund, Kelly Day, Claudia Carvalho-Queiroz, Andreas Kaiser, Mattias Carlsten, Stephan Mielke, Ahmed Salim Tarfy, Andrea Salmén, Samuel Svensson, Hanjing Xie
Publikováno v:
Journal for ImmunoTherapy of Cancer, Vol 11, Iss Suppl 1 (2023)
Externí odkaz:
https://doaj.org/article/434d78d6c7ea4321a7eae2392aef793c
Autor:
Bilal Almobarak, Vishal Amlani, Linda Inge, Tobias Hofving, Andreas Muth, Ola Nilsson, Martin Johansson, Yvonne Arvidsson, Erik Elias
Publikováno v:
BMC Cancer, Vol 23, Iss 1, Pp 1-12 (2023)
Abstract Background Small intestinal neuroendocrine tumors (SI-NET) are highly differentiated and genetically stable malignant tumors, yet they often present with advanced metastatic spread at the time of diagnosis. In contrast to many other types of
Externí odkaz:
https://doaj.org/article/d055bd62c17549389cf2301a57fd0067
Autor:
Michael Chau, Zelong Dou, Marta Baroncelli, Ellie B. Landman, Ameya Bendre, Masaru Kanekiyo, Alexandra Gkourogianni, Kevin Barnes, Lars Ottosson, Ola Nilsson
Publikováno v:
npj Regenerative Medicine, Vol 7, Iss 1, Pp 1-17 (2022)
Abstract During the development of the appendicular skeleton, the cartilaginous templates undergo hypertrophic differentiation and remodels into bone, except for the cartilage most adjacent to joint cavities where hypertrophic differentiation and end
Externí odkaz:
https://doaj.org/article/3f71d94abeac49fe917f31549e331a04
Autor:
Sen Zhao, Yuanqiang Zhang, Sigrun Hallgrimsdottir, Yuzhi Zuo, Xiaoxin Li, Dominyka Batkovskyte, Sen Liu, Hillevi Lindelöf, Shengru Wang, Anna Hammarsjö, Yang Yang, Yongyu Ye, Lianlei Wang, Zihui Yan, Jiachen Lin, Chenxi Yu, Zefu Chen, Yuchen Niu, Huizi Wang, Zhi Zhao, Pengfei Liu, Guixing Qiu, Jennifer E. Posey, Zhihong Wu, James R. Lupski, Ieva Micule, Britt-Marie Anderlid, Ulrika Voss, Dennis Sulander, Ekaterina Kuchinskaya, Ann Nordgren, Ola Nilsson, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Terry Jianguo Zhang, Giedre Grigelioniene, Nan Wu
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-11 (2022)
Abstract Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndromes types 1A and 1B. These disorders are ultra-rare and their natural course and phenotypic v
Externí odkaz:
https://doaj.org/article/0de9e51627714482a09108f93d1360a8
Autor:
Bryndís Baldvinsdóttir, Erik Kronvall, Elisabeth Ronne-Engström, Per Enblad, Paula Klurfan, Johanna Eneling, Peter Lindvall, Helena Aineskog, Steen Friðriksson, Mikael Svensson, Peter Alpkvist, Jan Hillman, Ola Nilsson
Publikováno v:
Brain and Spine, Vol 3, Iss , Pp 102035- (2023)
Externí odkaz:
https://doaj.org/article/08bf21d7870e48f9bf45d4ac9aafefbd
Autor:
M. Zulf Mughal, Giampiero I. Baroncelli, Carmen de Lucas-Collantes, Agnès Linglart, Andrea Magnolato, Adalbert Raimann, Fernando Santos, Dirk Schnabel, Nick Shaw, Ola Nilsson
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2023)
Given the relatively recent introduction of burosumab in the management of X-linked hypophosphatemia (XLH), there is limited real-world data to guide its use in clinical practice. As a group of European physicians experienced with burosumab treatment
Externí odkaz:
https://doaj.org/article/cf31ca10d592471fad91e3725e089c67