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Editorial: Rickets and osteomalacia, from genes to nutrition.社论:佝偻病与骨软化症,从基因到营养
Front Endocrinol (Lausanne). 2023 Jan 19;14:1141888. doi: 10.3389/fendo.2023.1141888. eCollection 2023.
2
The PEX gene: not a simple answer for X-linked hypophosphataemic rickets and oncogenic osteomalacia.PEX基因:并非X连锁低磷性佝偻病和肿瘤性骨软化症的简单答案。
Mol Cell Endocrinol. 1997 Sep 19;132(1-2):1-5. doi: 10.1016/s0303-7207(97)00111-1.
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A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.PHEX基因突变是成人期维生素D抵抗性低磷性骨软化症的病因:该疾病并非与X连锁低磷性佝偻病不同的独立疾病的证据。
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Case 29-2001: oncogenic hypophosphatemic osteomalacia.病例29 - 2001:致癌性低磷性骨软化症。
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Mutations of family with sequence similarity 20-member C gene causing lethal and nonlethal Raine syndrome causes hypophosphatemia rickets.家族性序列相似性 20 成员 C 基因突变导致致死性和非致死性 Raine 综合征引起低磷血症性佝偻病。
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本文引用的文献

1
Establishing the Prevalence of Osteomalacia in Arab Adolescents Using Biochemical Markers of Bone Health.采用骨健康生化标志物评估阿拉伯青少年佝偻病的患病率。
Nutrients. 2022 Dec 16;14(24):5354. doi: 10.3390/nu14245354.
2
Pregnancy Vitamin D Supplementation and Childhood Bone Mass at Age 4 Years: Findings From the Maternal Vitamin D Osteoporosis Study (MAVIDOS) Randomized Controlled Trial.孕期补充维生素D与4岁儿童骨量:母体维生素D骨质疏松症研究(MAVIDOS)随机对照试验的结果
JBMR Plus. 2022 Jun 11;6(7):e10651. doi: 10.1002/jbm4.10651. eCollection 2022 Jul.
3
Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia.成纤维细胞生长因子 23(FGF23)相关磷代谢紊乱的综合管理:X 连锁低磷血症患者评估、诊断和治疗的专家共识声明。
Nat Rev Endocrinol. 2022 Jun;18(6):366-384. doi: 10.1038/s41574-022-00662-x. Epub 2022 Apr 28.
4
Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis.识别弥漫性特发性骨肥厚伴早发性骨质疏松症患者中 ENPP1 杂合性缺失。
J Bone Miner Res. 2022 Jun;37(6):1125-1135. doi: 10.1002/jbmr.4550. Epub 2022 Apr 11.
5
Musculoskeletal Comorbidities and Quality of Life in ENPP1-Deficient Adults and the Response of Enthesopathy to Enzyme Replacement Therapy in Murine Models.成纤维细胞生长因子 23 与甲状旁腺激素治疗慢性肾脏病矿物质与骨异常的研究进展
J Bone Miner Res. 2022 Mar;37(3):494-504. doi: 10.1002/jbmr.4487. Epub 2021 Dec 26.
6
Gestational Vitamin D Supplementation Leads to Reduced Perinatal RXRA DNA Methylation: Results From the MAVIDOS Trial.妊娠补充维生素 D 可减少围产期 RXRA DNA 甲基化:来自 MAVIDOS 试验的结果。
J Bone Miner Res. 2019 Feb;34(2):231-240. doi: 10.1002/jbmr.3603. Epub 2019 Jan 18.
7
Clinical and laboratory evaluation of new immigrant and refugee children arriving in Greece.抵达希腊的新移民和难民儿童的临床与实验室评估。
BMC Pediatr. 2017 May 26;17(1):132. doi: 10.1186/s12887-017-0888-7.
8
Pathogenesis and diagnostic criteria for rickets and osteomalacia--proposal by an expert panel supported by the Ministry of Health, Labour and Welfare, Japan, the Japanese Society for Bone and Mineral Research, and the Japan Endocrine Society.佝偻病和骨软化症的发病机制及诊断标准——由日本厚生劳动省、日本骨与矿物质研究学会以及日本内分泌学会支持的专家小组提出
J Bone Miner Metab. 2015 Sep;33(5):467-73. doi: 10.1007/s00774-015-0698-7. Epub 2015 Jul 22.
9
Value of plasma calcium, phosphate, and alkaline phosphatase measurements in the diagnosis of histological osteomalacia.血浆钙、磷和碱性磷酸酶测定在组织学骨软化症诊断中的价值。
J Clin Pathol. 1982 Jun;35(6):625-30. doi: 10.1136/jcp.35.6.625.

Editorial: Rickets and osteomalacia, from genes to nutrition.

作者信息

Doulgeraki Artemis, Laurent Michaël R

机构信息

Department of Bone and Mineral Metabolism, Institute of Child Health, Agia Sophia Children's Hospital, Athens, Greece.

Centre for Metabolic Bone Diseases, University Hospitals Leuven, Leuven, Belgium.

出版信息

Front Endocrinol (Lausanne). 2023 Jan 19;14:1141888. doi: 10.3389/fendo.2023.1141888. eCollection 2023.

DOI:10.3389/fendo.2023.1141888
PMID:36742385
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9893633/
Abstract
摘要