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Diagnosis and treatment of adult hypophosphatasia: Still a big challenge?

作者信息

Inoue Daisuke

机构信息

Third Department of Medicine, Teikyo University Chiba Medical Center, 3426-3 Anesaki, Ichihara-shi, Chiba, 2990111, Japan.

出版信息

Osteoporos Sarcopenia. 2024 Mar;10(1):1-2. doi: 10.1016/j.afos.2024.03.002. Epub 2024 Mar 16.

DOI:10.1016/j.afos.2024.03.002
PMID:38690541
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11056387/
Abstract
摘要

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2
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Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report.组织非特异性碱性磷酸酶基因复合杂合p.Phe327Leu错义突变和c.1559delT移码突变的成人低磷性骨软化症:一例报告
J Med Case Rep. 2019 Apr 24;13(1):101. doi: 10.1186/s13256-019-2045-4.
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Prenatal diagnosis of congenital hypophosphatasia: challenge met most adequately by fetal radiography.先天性低磷酸酯酶症的产前诊断:胎儿X线摄影最能充分应对这一挑战。
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Front Oral Health. 2025 Jul 18;6:1585188. doi: 10.3389/froh.2025.1585188. eCollection 2025.
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Osteoporos Sarcopenia. 2025 Jun;11(2):38-42. doi: 10.1016/j.afos.2025.05.003. Epub 2025 Jun 9.
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Effects of asfotase alfa on fracture healing of adult patient with hypophosphatasia and literature review.阿法骨化醇对低磷性骨软化症成年患者骨折愈合的影响及文献综述
Orphanet J Rare Dis. 2025 Apr 6;20(1):162. doi: 10.1186/s13023-025-03663-x.

本文引用的文献

1
Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia.成人低磷酸酯酶症的肌肉骨骼和神经认知临床意义。
Osteoporos Sarcopenia. 2023 Dec;9(4):115-120. doi: 10.1016/j.afos.2023.12.003. Epub 2023 Dec 20.
2
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.低磷酸酯酶症的诊断:儿童和成人的现状和拟议的诊断标准。
Osteoporos Int. 2024 Mar;35(3):431-438. doi: 10.1007/s00198-023-06844-1. Epub 2023 Nov 20.
3
The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance.成人低磷酸酯酶症诊断的挑战:HPP 国际工作组文献监测的结果。
Osteoporos Int. 2024 Mar;35(3):439-449. doi: 10.1007/s00198-023-06859-8. Epub 2023 Nov 20.
4
Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group.儿童和青少年低磷酸酯酶症诊断标准的建议:来自 HPP 国际工作组的结果。
Osteoporos Int. 2024 Jan;35(1):1-10. doi: 10.1007/s00198-023-06843-2. Epub 2023 Nov 20.
5
Atypical Femoral Fracture in Hypophosphatasia: A Systematic Review.低磷性骨软化症中的非典型股骨骨折:一项系统评价
Int J Endocrinol. 2023 Sep 12;2023:5544148. doi: 10.1155/2023/5544148. eCollection 2023.
6
Effects of asfotase alfa in adults with pediatric-onset hypophosphatasia over 24 months of treatment.阿法特司治疗儿童期发病的低磷酸酯酶症成人患者 24 个月的疗效。
Bone. 2023 Oct;175:116856. doi: 10.1016/j.bone.2023.116856. Epub 2023 Jul 20.
7
Alkaline Phosphatases : Structure, substrate specificity and functional relatedness to other members of a large superfamily of enzymes.碱性磷酸酶:结构、底物特异性及与该大家族中其他酶成员的功能相关性。
Purinergic Signal. 2006 Jun;2(2):335-41. doi: 10.1007/s11302-005-5435-6. Epub 2006 Jun 17.
8
Hypophosphatasia; a new developmental anomaly.低磷酸酯酶症;一种新的发育异常。
Am J Dis Child (1911). 1948 Jun;75(6):822-31. doi: 10.1001/archpedi.1948.02030020840003.