A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta

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

Fractures in Osteogenesis Imperfecta: Pathogenesis, Treatment, Rehabilitation and Prevention

Autor: Wouter Nijhuis, Marjolein Verhoef, Christiaan van Bergen, Harrie Weinans, Ralph Sakkers

Publikováno v: Children, Vol 9, Iss 2, p 268 (2022)

Fractures in patients with osteogenesis imperfecta (OI) are caused by a decreased strength of bone due to a decreased quality and quantity of bone matrix and architecture. Mutations in the collagen type 1 encoding genes cause the altered formation of

Externí odkaz: https://doaj.org/article/ab26714fbf5b40afbeb272fb6a198dd9

A Standard Set of Outcome Measures for the Comprehensive Assessment of Osteogenesis Imperfecta

Autor: Jony Sun, Kathleen Montpetit, Eric Hiu Kwong Yeung, A.A. Franken, Jean Pierre Salles, Richard W. Kruse, Wouter Nijhuis, Lieve Michiels, Michael To, Valérie Porquet-Bordes, Kara Ayers, Ralph J. B. Sakkers, Antonella Forlino, Oliver Semler, Laura L. Tosi, Lidiia Zhytnik, Claire Hill, Frank Rauch, M. Verhoef, Paolo Fraschini, Yangyang Yao, Lars Folkestad, Lena L. Wekre, Leonardo Panzeri, Guus J. M. Janus, Chantal Damas, Maria Carola Zillikens

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 16(1):140. BioMed Central Ltd.
Nijhuis, W, Franken, A, Ayers, K, Damas, C, Folkestad, L, Forlino, A, Fraschini, P, Hill, C, Janus, G, Kruse, R, Lande Wekre, L, Michiels, L, Montpetit, K, Panzeri, L, Porquet-Bordes, V, Rauch, F, Sakkers, R, Salles, J P, Semler, O, Sun, J, To, M, Tosi, L, Yao, Y, Yeung, E H K, Zhytnik, L, Zillikens, M C & Verhoef, M 2021, ' A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta ', Orphanet Journal of Rare Diseases, vol. 16, no. 1, 140 . https://doi.org/10.1186/s13023-021-01682-y
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)

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 effectiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24779e6202befe09e9268d0a89c447b9
https://doi.org/10.21203/rs.3.rs-40437/v2

Targeted Sequence Capture Metagenomics (ViroCap) to Detect Viruses in Stool Samples of Hematopoietic Stem Cell Transplantation Patients

Autor: Caroline A. Lindemans, Wouter Nijhuis, Annelies Riezebos-Brilman, Suze A. Jansen, Helen L. Leavis, Rob Schuurman

Publikováno v: Biology of Blood and Marrow Transplantation. 26:S174-S175

Introduction Gastro-intestinal (GI) symptoms in pediatric allogeneic hematopoietic stem cell transplantation (HSCT) patients are common and may be caused by viruses, Graft-Versus-Host-Disease (GVHD) or both. Currently, little is known about the GI vi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eb0ef3ea343d12dae7c0852d8775d1c0
https://doi.org/10.1016/j.bbmt.2019.12.731