Zobrazeno 1 - 10
of 330
pro vyhledávání: '"Brittle bone disease"'
Ophthalmological screening guidelines for individuals with Osteogenesis Imperfecta: a scoping review
Autor:
Sarah Moussa, Jasmine Rocci, Reggie Hamdy, Jakob Grauslund, Marie-Louise Lyster, Argerie Tsimicalis
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Background Osteogenesis imperfecta (OI) is a connective tissue disorder in which the Type 1 collagen is defective. The eye is a structure rich in collagen Type 1 and is heavily impacted by the disease. Many vision-threatening eye diseases ha
Externí odkaz:
https://doaj.org/article/eb79491e127b4c4c97c6f093663c185d
Autor:
Belén Sagastizabal, Inmaculada Calvo, Àngels Martínez-Ferrer, James Clancy, Álvaro Pérez, Alicia Gil, Rosa Bou
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Osteogenesis imperfecta (OI) is a rare disease characterized by low bone mass and bone fragility, associated with an increased risk of fractures, and skeletal and extra-skeletal symptoms that results in an impairment of health-rel
Externí odkaz:
https://doaj.org/article/05b0f156ff3642f185f721df3bcca7c6
Autor:
Marina Mordenti, Manila Boarini, Federico Banchelli, Diego Antonioli, Serena Corsini, Maria Gnoli, Manuela Locatelli, Elena Pedrini, Eric Staals, Giovanni Trisolino, Marcella Lanza, Luca Sangiorgi
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2024)
IntroductionThe present study aims to describe a large cohort of Italian patients affected by osteogenesis imperfecta, providing a picture of the clinical bony and non-bony features and the molecular background to improve knowledge of the disease to
Externí odkaz:
https://doaj.org/article/b2a40acbb65c4dc8a66e41fd68594fc1
Autor:
Pachajoa H, Giraldo-Ocampo S
Publikováno v:
Orthopedic Research and Reviews, Vol Volume 14, Pp 453-458 (2022)
Harry Pachajoa,1,2 Sebastian Giraldo-Ocampo3 1Genetics Division, Fundación Valle del Lili, Cali, Colombia; 2Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia; 3Departamento de Microb
Externí odkaz:
https://doaj.org/article/b1ad9cd9045a40feb83fa45a9165c09c
Akademický článek
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Akademický článek
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Autor:
Wouter Nijhuis, Anton Franken, Kara Ayers, Chantal Damas, Lars Folkestad, Antonella Forlino, Paolo Fraschini, Claire Hill, Guus Janus, Richard Kruse, Lena Lande Wekre, Lieve Michiels, Kathleen Montpetit, Leonardo Panzeri, Valerie Porquet-Bordes, Frank Rauch, Ralph Sakkers, Jean-Pierre Salles, Oliver Semler, Jony Sun, Michael To, Laura Tosi, Yangyang Yao, Eric Hiu Kwong Yeung, Lidiia Zhytnik, Maria Carola Zillikens, Marjolein Verhoef
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)
Abstract Background Osteogenesis Imperfecta (OI) is a genetic disorder also known as ‘brittle bone disease’. The clinical manifestation of OI shows a wide variation. Therefore, care for patients with OI requires an interdisciplinary approach. The
Externí odkaz:
https://doaj.org/article/e4473b5c08aa4163ac055f6a82da002b
Autor:
Xuying Zhang, Marc Hirschfeld, Julia Beck, Alexandra Kupke, Kernt Köhler, Ekkehard Schütz, Bertram Brenig
Publikováno v:
Veterinary Quarterly, Vol 40, Iss 1, Pp 58-67 (2020)
Background Neuromusculoskeletal anomalies generally in combination with severe clinical symptoms, comprise a heterogeneous group of fairly common and mostly fatal disorders in man and animals. Osteogenesis imperfecta (OI), also known as brittle bone
Externí odkaz:
https://doaj.org/article/88dc0545da9246c083ff8a608fe869bd
Publikováno v:
Clinical and Translational Medicine, Vol 11, Iss 4, Pp n/a-n/a (2021)
Abstract The safety of mesenchymal stem cell therapy for osteogenesis imperfecta has been demonstrated previously. However, it is unknown how the trophic effects are mediated by stem cells. In the present commentary, we bring to the attention of read
Externí odkaz:
https://doaj.org/article/4fe26e50553c44e99d1f8f9f3d8e4d7a
Akademický článek
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