PCR60 Self-Reported Impact of Osteogenesis Imperfecta (OI) on Quality of Life (QOL) Domains in Adults

Autor: C Raggio, LL Wekre, MB Bober, O Semler, I Westerheim, T Hart, T van Welzenis, R Hawthorne, S Prince, F Rauch

Publikováno v: Value in Health. 25:S401

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d2b6a30cdba2843a0a17d4f25383ac72
https://doi.org/10.1016/j.jval.2022.09.1995

Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood.

Autor: Hald JD; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark. jannie.hald@midt.rm.dk.; Centre for Rare Diseases, Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark. jannie.hald@midt.rm.dk., Langdahl B; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark., Folkestad L; Bone and Mineral Unit, Department of Endocrinology, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Wekre LL; TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Oslo, Norway., Johnson R; Bone and Mineral Research Unit, Department of Medicine, Oregon Health & Science University, Portland, USA., Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Raggio C; Department of Orthopedics, Hospital for Special Surgery, New York, NY, USA., Ralston SH; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, Western General Hospital, University of Edinburgh, Edinburgh, EH 2XU, UK., Semler O; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Tosi L; Division of Orthopaedics & Sports Medicine, Children's National Hospital, Washington, DC, 20010, USA., Orwoll E; Bone and Mineral Research Unit, Department of Medicine, Oregon Health & Science University, Portland, USA.

Publikováno v: Calcified tissue international [Calcif Tissue Int] 2024 Jun 05. Date of Electronic Publication: 2024 Jun 05.

ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions.

Autor: Casareto L; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. Electronic address: lorena.casareto@ior.it., Appelman-Dijkstra NM; Department of Internal Medicine, Division of Endocrinology and Leiden Center for Bone Quality, Leiden University Medical Center, Leiden, the Netherlands., Brandi ML; Bone Metabolic Diseases Unit, Careggi University Hospital (AOU Careggi), Florence, Italy, Florence, Italy., Chapurlat R; National Reference Center for Fibrous Dysplasia of Bone/McCune-Albright syndrome, INSERM, UMR, 1033, Hospices Civils de Lyon, Lyon, France., Cormier-Daire V; French reference center for skelatal dysplasia, Paris Cité University, Imagine Institute, Assistance Publique- Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris, France., Hamdy NAT; Department of Internal Medicine, Division of Endocrinology and Leiden Center for Bone Quality, Leiden University Medical Center, Leiden, the Netherlands., Heath KE; Skeletal dysplasia multidisciplinary Unit (UMDE) and Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ and CIBERER, ISCIII, Madrid, Spain., Horn J; Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Olso, Norway., Mantovani G; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Mohnike K; Universitätsklinikum Magdeburg, University of Magdeburg, Magdeburg, Germany., Sousa SB; Centro Hospitalar e Universitário de Coimbra, EPE, Portugal., Travessa A; Medical Genetics Department, Centro Hospitalar Universitário Lisboa Norte, and Faculty of Medicine, University of Lisbon, Lisbon, Portugal., Wekre LL; Oslo University Hospital, Oslo, Norway; TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Norway., Zillikens MC; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, the Netherlands., Sangiorgi L; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2024 Apr; Vol. 68, pp. 104916. Date of Electronic Publication: 2024 Feb 01.

The range of publications on arthrogryposis multiplex congenita from 1995 to 2022-A scoping review.

Autor: Hermansen MV; Department of Neurology, Oslo University Hospital (Ullevaal Hospital), Oslo, 0450, Norway., Wekre LL; TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, 1453 Nesodden, Oslo, Norway., Lidal IB; TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, 1453 Nesodden, Oslo, Norway.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jul; Vol. 191 (7), pp. 1693-1703. Date of Electronic Publication: 2023 Apr 03.

Physical functioning and activities of daily living in adults with amyoplasia, the most common form of arthrogryposis. A cross-sectional study.

Autor: Steen U; a TRS National Resource Centre for Rare Disorders , Sunnaas Rehabilitation Hospital , Nesoddtangen , Norway., Wekre LL; b Norwegian National Advisory Unit on Rare Disorders, NKSD , Oslo University Hospital , Oslo , Norway., Vøllestad NK; c Institute of Health and Society , University of Oslo , Oslo , Norway.

Publikováno v: Disability and rehabilitation [Disabil Rehabil] 2018 Nov; Vol. 40 (23), pp. 2767-2779. Date of Electronic Publication: 2017 Jul 24.