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.
Abstract
摘要
相似文献
1
Special Collection on Rare Musculoskeletal Diseases 2024.
JBMR Plus. 2024 Dec 17;9(2):ziae165. doi: 10.1093/jbmrpl/ziae165. eCollection 2025 Feb.
2
Rare diseases: a challenge in paediatric dentistry.
Eur J Paediatr Dent. 2024 Sep 3;25(3):171-171. doi: 10.23804/ejpd.2024.25.03.01. Epub 2024 Sep 1.
3
Isoenzymes of alkaline phosphatase in infantile hypophosphatasia.
J Lab Clin Med. 1983 Jul;102(1):24-30.
4
Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia.
Eur J Pediatr. 1988 Aug;147(6):626-31. doi: 10.1007/BF00442478.
5
[Rare bone disorders and respective treatments].
Internist (Berl). 2021 May;62(5):486-495. doi: 10.1007/s00108-021-00995-1. Epub 2021 Mar 29.
6
Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia.
Orphanet J Rare Dis. 2016 Nov 28;11(1):160. doi: 10.1186/s13023-016-0538-4.
7
Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance.
Orphanet J Rare Dis. 2020 May 19;15(1):117. doi: 10.1186/s13023-020-01398-5.
8
[Pediatric reference values for alkaline phosphatase and pathophysiological variations].
Ann Biol Clin (Paris). 2020 Dec 1;78(6):604-608. doi: 10.1684/abc.2020.1598.
9
[Neonatal hypophosphatasia (author's transl)].
Radiol Med. 1978 Dec;64(12):1365-72.
10
Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management.
Eur J Med Genet. 2023 Nov;66(11):104856. doi: 10.1016/j.ejmg.2023.104856. Epub 2023 Sep 25.
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.
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.
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.
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.
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.
JBMR Plus. 2024 Aug 8;8(9):ziae103. doi: 10.1093/jbmrpl/ziae103. eCollection 2024 Sep.
6
Ocular findings in Jansen metaphyseal chondrodysplasia.
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.
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.
JBMR Plus. 2024 May 7;8(8):ziae062. doi: 10.1093/jbmrpl/ziae062. eCollection 2024 Aug.
Zotero 插件