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Special Collection on Rare Musculoskeletal Diseases 2024.

作者信息

Liu Eva S, Wallace Maegen J

机构信息

Division of Endocrinology, Diabetes, and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, United States.

Department of Pediatric Orthopedic Surgery, Phoenix Children's Hospital, Phoenix, AZ 85016, United States.

出版信息

JBMR Plus. 2024 Dec 17;9(2):ziae165. doi: 10.1093/jbmrpl/ziae165. eCollection 2025 Feb.

DOI:10.1093/jbmrpl/ziae165
PMID:39776617
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11701658/
Abstract
摘要

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本文引用的文献

1
Association between work productivity and characteristics of adults with X-linked hypophosphatemia: an analysis of the XLH disease monitoring program.X连锁低磷血症成年患者的工作效率与特征之间的关联:XLH疾病监测项目分析
JBMR Plus. 2024 Jul 29;8(11):ziae102. doi: 10.1093/jbmrpl/ziae102. eCollection 2024 Nov.
2
Prevalence of chondrocalcinosis and calcium pyrophosphate deposition disease in a cohort of adult patients with low alkaline phosphatase levels and a positive versus negative genetic study.一组碱性磷酸酶水平低的成年患者中软骨钙质沉着症和焦磷酸钙沉积病的患病率及基因研究阳性与阴性情况
JBMR Plus. 2024 Sep 26;8(11):ziae124. doi: 10.1093/jbmrpl/ziae124. eCollection 2024 Nov.
3
Genotype-phenotype correlations in 294 pediatric patients with osteogenesis imperfecta.294例成骨不全患儿的基因型与表型相关性研究
JBMR Plus. 2024 Sep 30;8(11):ziae125. doi: 10.1093/jbmrpl/ziae125. eCollection 2024 Nov.
4
Osteoclast indices in osteogenesis imperfecta: systematic review and meta-analysis.成骨不全症中的破骨细胞指数:系统评价与荟萃分析。
JBMR Plus. 2024 Aug 21;8(11):ziae112. doi: 10.1093/jbmrpl/ziae112. eCollection 2024 Nov.
5
ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.在颅骨骨干发育异常的小鼠模型中,ENPP1酶替代疗法可改善异位钙化,但无法挽救骨骼表型。
JBMR Plus. 2024 Aug 8;8(9):ziae103. doi: 10.1093/jbmrpl/ziae103. eCollection 2024 Sep.
6
Ocular findings in Jansen metaphyseal chondrodysplasia.詹森干骺端软骨发育不良的眼部表现。
JBMR Plus. 2024 Jul 12;8(9):ziae089. doi: 10.1093/jbmrpl/ziae089. eCollection 2024 Sep.
7
Imiglucerase, cholecalciferol, and bone-diet in skeletal health management of type I Gaucher disease patients: a pilot study and systematic review.伊米苷酶、胆钙化醇和骨饮食在1型戈谢病患者骨骼健康管理中的应用:一项初步研究和系统评价
JBMR Plus. 2024 May 27;8(8):ziae071. doi: 10.1093/jbmrpl/ziae071. eCollection 2024 Aug.
8
Improvement in quality of life after asfotase alfa treatment in adults with pediatric-onset hypophosphatasia: data from 5 patient-reported outcome measures.儿童期起病的低磷酸酯酶症成人患者接受阿法骨化醇治疗后生活质量的改善:来自5项患者报告结局指标的数据
JBMR Plus. 2024 May 7;8(8):ziae062. doi: 10.1093/jbmrpl/ziae062. eCollection 2024 Aug.