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Missense mutations in ENPP1 result in osteoporosis in patients and is recapitulated in the ENPP1 loss of function murine model ENPP1的错义突变导致患者骨质疏松,并在ENPP1功能丧失小鼠模型中得到了概括
Pub Date : 2019-07-31 DOI: 10.1530/boneabs.7.p64
D. Braddock, R. Oheim, K. Zimmerman, D. Kavanagh, M. Horowitz, T. Carpenter
{"title":"Missense mutations in ENPP1 result in osteoporosis in patients and is recapitulated in the ENPP1 loss of function murine model","authors":"D. Braddock, R. Oheim, K. Zimmerman, D. Kavanagh, M. Horowitz, T. Carpenter","doi":"10.1530/boneabs.7.p64","DOIUrl":"https://doi.org/10.1530/boneabs.7.p64","url":null,"abstract":"","PeriodicalId":9160,"journal":{"name":"Bone Abstracts","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83026010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bone mineral density in surgical hemivertebrae treatment in a prematurely born child − a case study 早产儿半椎体手术治疗中的骨密度-一个案例研究
Pub Date : 2019-07-31 DOI: 10.1530/boneabs.7.p205
Dragana Vukliš, R. Krasnik, A. Mikov, Drljan Čila Demeši, S. Zvekić, Krasnikova Jarmila Lačokova
{"title":"Bone mineral density in surgical hemivertebrae treatment in a prematurely born child − a case study","authors":"Dragana Vukliš, R. Krasnik, A. Mikov, Drljan Čila Demeši, S. Zvekić, Krasnikova Jarmila Lačokova","doi":"10.1530/boneabs.7.p205","DOIUrl":"https://doi.org/10.1530/boneabs.7.p205","url":null,"abstract":"","PeriodicalId":9160,"journal":{"name":"Bone Abstracts","volume":"19 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88793498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Seasonal variations in vitamin D status in children with haematological malignancies in Sweden 瑞典血液恶性肿瘤儿童维生素D状况的季节性变化
Pub Date : 2019-07-31 DOI: 10.1530/boneabs.7.p171
N. Jackmann, O. Mäkitie, A. Harila-Saari, J. Gustafsson, Dženeta Nezirević Dernroth, P. Frisk
{"title":"Seasonal variations in vitamin D status in children with haematological malignancies in Sweden","authors":"N. Jackmann, O. Mäkitie, A. Harila-Saari, J. Gustafsson, Dženeta Nezirević Dernroth, P. Frisk","doi":"10.1530/boneabs.7.p171","DOIUrl":"https://doi.org/10.1530/boneabs.7.p171","url":null,"abstract":"","PeriodicalId":9160,"journal":{"name":"Bone Abstracts","volume":"64 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84703531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Gender specific paediatric reference data for muscle function parameters assessed using jumping mechanography 使用跳跃力学评估的肌肉功能参数的性别特异性儿科参考数据
Pub Date : 2019-07-31 DOI: 10.1530/boneabs.7.p155
Sonal A. Palande, V. Ekbote, S. Chiplonkar, R. Padidela, Z. Mughal, Smruti Vispute, R. Rawer, A. Khadilkar, V. Khadilkar
{"title":"Gender specific paediatric reference data for muscle function parameters assessed using jumping mechanography","authors":"Sonal A. Palande, V. Ekbote, S. Chiplonkar, R. Padidela, Z. Mughal, Smruti Vispute, R. Rawer, A. Khadilkar, V. Khadilkar","doi":"10.1530/boneabs.7.p155","DOIUrl":"https://doi.org/10.1530/boneabs.7.p155","url":null,"abstract":"","PeriodicalId":9160,"journal":{"name":"Bone Abstracts","volume":"7 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84691099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Self-reported sedentary time is negatively associated with microarchitecture of the tibia 自我报告的久坐时间与胫骨微结构呈负相关
Pub Date : 2019-07-31 DOI: 10.1530/boneabs.7.p154
R. Moon, Tom Gillespie, N. Quiney, C. Cooper, N. Harvey, J. Davies
{"title":"Self-reported sedentary time is negatively associated with microarchitecture of the tibia","authors":"R. Moon, Tom Gillespie, N. Quiney, C. Cooper, N. Harvey, J. Davies","doi":"10.1530/boneabs.7.p154","DOIUrl":"https://doi.org/10.1530/boneabs.7.p154","url":null,"abstract":"","PeriodicalId":9160,"journal":{"name":"Bone Abstracts","volume":"27 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85009717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A smartphone-based survey of frequency and severity of adverse effects following bisphosphonate therapy in a Tertiary Paediatric Centre 在第三儿科中心对双膦酸盐治疗后不良反应的频率和严重程度进行基于智能手机的调查
Pub Date : 2019-07-31 DOI: 10.1530/boneabs.7.p129
J. Blackburn, V. Price, R. Ramakrishnan, P. Dharmaraj
{"title":"A smartphone-based survey of frequency and severity of adverse effects following bisphosphonate therapy in a Tertiary Paediatric Centre","authors":"J. Blackburn, V. Price, R. Ramakrishnan, P. Dharmaraj","doi":"10.1530/boneabs.7.p129","DOIUrl":"https://doi.org/10.1530/boneabs.7.p129","url":null,"abstract":"","PeriodicalId":9160,"journal":{"name":"Bone Abstracts","volume":"78 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84092712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
TA-46, a recombinant soluble FGFR3 receptor for the treatment of achondroplasia, is safe and well-tolerated in healthy volunteers TA-46是一种用于治疗软骨发育不全的重组可溶性FGFR3受体,在健康志愿者中安全且耐受性良好
Pub Date : 2019-07-31 DOI: 10.1530/boneabs.7.oc24
S. Collins, G. Greig, R. Porter, J. Stavenhagen, L. Santarelli, C. Meyer
{"title":"TA-46, a recombinant soluble FGFR3 receptor for the treatment of achondroplasia, is safe and well-tolerated in healthy volunteers","authors":"S. Collins, G. Greig, R. Porter, J. Stavenhagen, L. Santarelli, C. Meyer","doi":"10.1530/boneabs.7.oc24","DOIUrl":"https://doi.org/10.1530/boneabs.7.oc24","url":null,"abstract":"","PeriodicalId":9160,"journal":{"name":"Bone Abstracts","volume":"32 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85999707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic loss of heparanase does not inhibit osteochondromas in Ext1 and Ext2 double heterozygous hereditary multiple osteochondroma mouse model 在Ext1和Ext2双杂合遗传性多发性骨软骨瘤小鼠模型中,肝素酶基因缺失对骨软骨瘤无抑制作用
Pub Date : 2019-07-31 DOI: 10.1530/boneabs.7.p212
Kalyan C. Nannuru, Johanna Jimenez, S. Brydges, A. Murphy, A. Economides, S. Hatsell
{"title":"Genetic loss of heparanase does not inhibit osteochondromas in Ext1 and Ext2 double heterozygous hereditary multiple osteochondroma mouse model","authors":"Kalyan C. Nannuru, Johanna Jimenez, S. Brydges, A. Murphy, A. Economides, S. Hatsell","doi":"10.1530/boneabs.7.p212","DOIUrl":"https://doi.org/10.1530/boneabs.7.p212","url":null,"abstract":"","PeriodicalId":9160,"journal":{"name":"Bone Abstracts","volume":"125 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83524102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Vitamin D deficiency nutritional rickets presenting to secondary care in children (<16 Years) - A United Kingdom surveillance study 维生素D缺乏症营养性佝偻病出现在儿童(<16岁)的二级保健-英国的一项监测研究
Pub Date : 2019-07-31 DOI: 10.1530/boneabs.7.p104
N. Shaw, Z. Mughal, P. Julies, K. Pall, R. Lynn, M. Leoni, A. Calder, C. McDonnell, H. McDevitt, M. Blair
{"title":"Vitamin D deficiency nutritional rickets presenting to secondary care in children (<16 Years) - A United Kingdom surveillance study","authors":"N. Shaw, Z. Mughal, P. Julies, K. Pall, R. Lynn, M. Leoni, A. Calder, C. McDonnell, H. McDevitt, M. Blair","doi":"10.1530/boneabs.7.p104","DOIUrl":"https://doi.org/10.1530/boneabs.7.p104","url":null,"abstract":"","PeriodicalId":9160,"journal":{"name":"Bone Abstracts","volume":"50 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84096989","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Duchenne muscular dystrophy: preliminary results of the Risbo-DMD study 杜氏肌营养不良症:Risbo-DMD研究的初步结果
Pub Date : 2019-07-31 DOI: 10.1530/boneabs.7.p28
F. Broggi, S. Vai, G. Baranello, V. Sansone, G. D'angelo, M. Pane, G. Vita, M. Bianchi
{"title":"Duchenne muscular dystrophy: preliminary results of the Risbo-DMD study","authors":"F. Broggi, S. Vai, G. Baranello, V. Sansone, G. D'angelo, M. Pane, G. Vita, M. Bianchi","doi":"10.1530/boneabs.7.p28","DOIUrl":"https://doi.org/10.1530/boneabs.7.p28","url":null,"abstract":"","PeriodicalId":9160,"journal":{"name":"Bone Abstracts","volume":"35 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78623187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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