ReviewTherapeutic advances in musculoskeletal disease2019
Update on the management of hypophosphatasia.
Review in Therapeutic advances in musculoskeletal disease, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Spectrum of Osteoporosis Etiologies with Associated Vertebral Compression Fractures in Children: Analysis of 11 Cases.Journal of clinical medicine · 2025Article
- Review
- Grading Pseudofractures-The "Breach-Beak-Bump-Bridge" Approach.Calcified tissue international · 2025Review
- Review
- Raman Spectroscopic Analysis of Molecular Structure and Mechanical Properties of Hypophosphatasia Primary Tooth.Molecules (Basel, Switzerland) · 2024Article
- Article
- Dental manifestation and management of hypophosphatasia.The Japanese dental science review · 2022Review
- Bone turnover and mineral metabolism in adult patients with hypophosphatasia treated with asfotase alfa.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2021Observational
- Active search of adult patients with persistently low serum alkaline phosphatase levels for the diagnosis of hypophosphatasia.Archives of endocrinology and metabolism · 2021Article
- Predictive modeling of hypophosphatasia based on a case series of adult patients with persistent hypophosphatasemia.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2021Article
- Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia.JIMD reports · 2021Article
- New therapeutic options for bone diseases.Wiener medizinische Wochenschrift (1946) · 2021Article
- Case Report: Variations in theFrontiers in genetics · 2021Article
- Tissue-Nonspecific Alkaline Phosphatase-A Gatekeeper of Physiological Conditions in Health and a Modulator of Biological Environments in Disease.Biomolecules · 2020Review
- Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation: a family report.Journal of bone and mineral metabolism · 2020Article
- Hypophosphatasia: Current Literature for Pathophysiology, Clinical Manifestations, Diagnosis, and Treatment.Cureus · 2020Review
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypophosphatasia is a rare inherited disease caused by a loss of function mutations in the gene that codes for the tissue-nonspecific alkaline phosphatase enzyme. It is autosomally inherited and at least 388 different genetic defects have been identified. The clinical presentation is variable from a severe perinatal form, that is fatal if untreated, to adult-onset disease. This review covers the pathophysiology, diagnosis and current management option including the recently licensed enzyme replacement therapy asfotase alfa.
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