Zobrazeno 1 - 10
of 149
pro vyhledávání: '"Lothar Seefried"'
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:
Lothar Seefried, Ali Alzahrani, Pedro Arango Sancho, Justine Bacchetta, Rachel Crowley, Francesco Emma, Jonathan Gibbins, Anna Grandone, Muhammad Kassim Javaid, Gabriel Mindler, Adalbert Raimann, Anya Rothenbuhler, Ian Tucker, Leonid Zeitlin, Agnès Linglart
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss S2, Pp 1-16 (2023)
Externí odkaz:
https://doaj.org/article/57d5db4ce68a4f02af378ea29ec76766
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:
Lothar Seefried, Martin Biosse Duplan, Karine Briot, Michael T. Collins, Rachel Evans, Pablo Florenzano, Neil Hawkins, Muhammad Kassim Javaid, Robin Lachmann, Leanne M. Ward
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
X-linked hypophosphatemia (XLH) is a rare, progressive, genetic disease with multisystem impact that typically begins to manifest in early childhood. Two treatment options exist: oral phosphate in combination with active vitamin D (“conventional th
Externí odkaz:
https://doaj.org/article/8857db7dec214c02a8bc6c7dc21c0c61
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/b78393f2c69246a196fe2d04d51f67de
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:
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
Autor:
Priya Kishnani, Kathryn Dahir, Gabriel Martos-Moreno, Agnès Linglart, Anna Petryk, William Mowrey, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Wolfgang Högler, Lothar Seefried
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100541- (2023)
Externí odkaz:
https://doaj.org/article/03776d4fcf724ad2b1a56076e9fee252
Autor:
Marc Jayankura, Arndt Peter Schulz, Olivier Delahaut, Richard Witvrouw, Lothar Seefried, Bruno Vande Berg, Guy Heynen, Wendy Sonnet
Publikováno v:
Stem Cell Research & Therapy, Vol 12, Iss 1, Pp 1-14 (2021)
Abstract Background Overall, 5–10% of fractures result in delayed unions or non-unions, causing major disabilities and a huge socioeconomic burden. Since rescue surgery with autologous bone grafts can cause additional challenges, alternative treatm
Externí odkaz:
https://doaj.org/article/5139df5ea70842548e553fdc31b4db29
Publikováno v:
Endocrine Connections, Vol 10, Iss 3, Pp 256-264 (2021)
Purpose: Aging and concurrent constitutional changes as sarcopenia, osteoporosis and obesity are associated with progressive functional decline. Coincidence and mutual interference of this risk factors require further evaluation. Methods: Cross-secti
Externí odkaz:
https://doaj.org/article/172845f7789e4b2495b5641ac800b5e5