Zobrazeno 1 - 10
of 234
pro vyhledávání: '"Ehlers–Danlos syndromes"'
Autor:
XU Kexin, LI Guozhuang, LI Qing, YIN Xiangjie, FANG Kun, WU Zhihong, ZHANG Jianguo, DISCO (Deciphering Disorders Involving Scoliosis ＆ COmorbidities) Study Group, WU Nan
Publikováno v:
罕见病研究, Vol 3, Iss 3, Pp 295-303 (2024)
The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. The clinical and genetic hetero- geneity of EDS frequently leads to unde
Externí odkaz:
https://doaj.org/article/db6025bccc7742379bb0fdaab73a2b71
Autor:
Kexin Xu, Guozhuang Li, Zhihong Wu, Terry Jianguo Zhang, Nan Wu, On behalf of the Chinese Multi-Disciplinary Working Group on the Ehlers-Danlos Syndromes
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-6 (2024)
Abstract Background The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders. EDS is clinically and genetically heterogeneous and usually involves multiple systems. There are 14 subtypes of EDS with hallmark featur
Externí odkaz:
https://doaj.org/article/82db6927b78a4b63bcf58092e75dd8dc
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
Externí odkaz:
https://doaj.org/article/7522b34b5c9a4fc7b5612d2d55df5dd2
Publikováno v:
Frontiers in Public Health, Vol 12 (2024)
IntroductionPatients with Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD) have significant health challenges that are well-documented, however their impact in terms of cost is not known. Our research objective was to examine
Externí odkaz:
https://doaj.org/article/2ab02b17b1074c0695391d334a80a738
Autor:
Ricardo Gamboa, Maria Elena Soto
Publikováno v:
Biomolecules & Biomedicine (2024)
Dear Editor, In relation to the letter expressing concerns about some important points of the article entitled “The usefulness of the genetic panel in the classification and refinement of diagnostic accuracy of Mexican patients with Marfan syndrome
Externí odkaz:
https://doaj.org/article/0e9d2d2e031c4fefadaff95bc588cce6
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Background Patients with uncommon genetic conditions often face limited in‐person resources for social and informational support. Hypermobile Ehlers–Danlos syndrome (hEDS) is a rare or underdiagnosed hereditary disorder of the connective
Externí odkaz:
https://doaj.org/article/0af1686f0ede42d8a17e8ce2bacd7509
Autor:
XU Kexin, LI Guozhuang, WU Zhihong, DISCO (Deciphering Disorders Involving Scoliosis & COmorbidities) Study Group, ZHANG Jianguo, WU Nan
Publikováno v:
罕见病研究, Vol 2, Iss 4, Pp 633-640 (2023)
Joint hypermobility (JH) refers to the ability of joints to move beyond the 'normal' limits, which can be either physiologic or pathologic. Hypermobility spectrum disorders (HSDs) are a group of joint hypermobility-related clinical conditions. HSDs p
Externí odkaz:
https://doaj.org/article/fd695b79149147a194738e68b9ba6273
Publikováno v:
罕见病研究, Vol 2, Iss 4, Pp 554-588 (2023)
The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders. EDS is clinically and genetically heterogeneous and usually involves multiple systems. EDS has 14 subtypes, the common features of which include joint hyper
Externí odkaz:
https://doaj.org/article/94a1b09b9e4d421b99b0e5352ec2c403
Autor:
Erika Kline, Amanda Leigh Garrett, Catherine Brownstein, Sonja Ziniel, Erica Payton, Aleah Goldin, Kathleen Hoffman, Judy Chandler, Shani Weber
Publikováno v:
Health Expectations, Vol 26, Iss 4, Pp 1524-1535 (2023)
Abstract Introduction Technological improvements alone have not led to the integration of genomic medicine across a broad range of diseases and populations. For genomic medicine to be successfully implemented across specialties and conditions, the ch
Externí odkaz:
https://doaj.org/article/7959c20587fe477e88eac57427162413
Publikováno v:
Frontiers in Medicine, Vol 10 (2024)
IntroductionIndividuals with Ehlers-Danlos syndromes (EDS) often have complex and multi-faceted symptoms across the lifespan. Pain and the related symptoms of fatigue and sleep disorders are common. The objective of this qualitative study was to unde
Externí odkaz:
https://doaj.org/article/c09a76e70e8440de94a4d63fa1f59bd6