Ulnar lengthening for children with forearm deformity from hereditary multiple exostoses: a retrospective study from a tertiary medical center

Autor: Shuo Wang, Bomansaan Herman, Yiheng Wu, Ming Lei, Blessing Mutasa, Pan Hong, Jin Li

Publikováno v: BMC Pediatrics, Vol 24, Iss 1, Pp 1-10 (2024)

Abstract Background Patients with hereditary multiple exostosis (HME) usually present with forearm deformity with or without radial head dislocation. Ulna lengthening has been proposed to address this condition. Exostosis resection plus ulna lengthen

Externí odkaz: https://doaj.org/article/0e92a02d6fc441199b993aa468acd794

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Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family

Autor: Jianwei Li, Zhiqiang Wang, Yaxin Han, Chengfang Jin, Dalin Cheng, Yong‐An Zhou, Junping Zhen

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 10, Iss 3, Pp n/a-n/a (2022)

Abstract Background Hereditary multiple exostosis (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage‐covered tumors on the external surfaces of bones (osteochondromas). Most of HME cases result f

Externí odkaz: https://doaj.org/article/24c601668d0b487a8a4cd8df461c1b73

A Commentary on 'Clinical and Functional Outcomes of Ulnar Lengthening in the Treatment of Masada Type I Forearm Deformities in Hereditary Multiple Osteochondromas'

Autor: Alireza Moharrami, Hamid Arabi

Publikováno v: Journal of Orthopedic and Spine Trauma, Vol 6, Iss 1 (2020)

No abstract is available.

Externí odkaz: https://doaj.org/article/2af271053d204fab9234589a6fdd0f9b

Mutations in the heparan sulfate backbone elongating enzymes EXT1 and EXT2 have no major effect on endothelial glycocalyx and the glomerular filtration barrier

Autor: Khalil, Ramzi, Boels, Margien G. S., Bezuijen, A., Boers, J. E., de Bruin, P. C., van Dijk, M. A. A. M., Drillenburg, P., Hamel, A. F., Hazelbag, H. M., Jonges, G. N., Kibbelaar, R. E., Lam, K. H., van der Linden, H., van Marsdijk, J., Meijer, C., Nagtegaal, I. D., Oudejans, J. J., Roelofs, J. J. T. H., Rozendaal, L., Sastrowijoto, S. H., Smits, M. M., Stavast, J., van den Berg, Bernard M., Bruijn, Jan A., Rabelink, Ton J., Hogendoorn, Pancras C. W., Baelde, Hans J.

Publikováno v: Molecular Genetics and Genomics, 297(2), 397-405. Springer Verlag
Molecular Genetics and Genomics, 297, 397-405. SPRINGER HEIDELBERG
Molecular Genetics and Genomics, 297, 2, pp. 397-405
Molecular genetics and genomics, 297(2), 397-405. Springer Verlag
Molecular Genetics and Genomics, 297, 397-405
PALGA Group 2022, ' Mutations in the heparan sulfate backbone elongating enzymes EXT1 and EXT2 have no major effect on endothelial glycocalyx and the glomerular filtration barrier ', Molecular Genetics and Genomics, vol. 297, no. 2, pp. 397-405 . https://doi.org/10.1007/s00438-022-01854-w

In this study, the effect of heterozygous germline mutations in the heparan sulfate (HS) glycosaminoglycan chain co-polymerases EXT1 and EXT2 on glomerular barrier function and the endothelial glycocalyx in humans is investigated. Heparan sulfate (HS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::700e116cf9b9787512352b8734dc7158
https://doi.org/10.1007/s00438-022-01854-w