ReviewCurrent rheumatology reports2018
Hypophosphatasia: From Diagnosis to Treatment.
Review in Current rheumatology reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 51 citations in OpenAlex.
- Evolving Therapeutic Paradigms in Pediatric Hypophosphatasia: From Survival-Driven Care to Integrated Precision Management.International journal of molecular sciences · 2026Review
- Molecular mechanisms of intermuscular bone development in Acrossocheilus wenchowensis.Journal of fish biology · 2026Article
- Review
- Neonatal hypophosphatasia: a case report of a rare genetic disorder.BMC pediatrics · 2025Article
- A novel dominant negative variant ofJBMR plus · 2025Article
- HMGB1 and TLR4 as biomarkers for osteoporosis risk in type 2 diabetes mellitus: a cross-sectional study.BMC endocrine disorders · 2025Article
- Hypophosphatasia in childhood: Diagnosis to management.Osteoporosis and sarcopenia · 2025Review
- Transporters in vitamin uptake and cellular metabolism: impacts on health and disease.Life metabolism · 2025Review
- How does overweight affect bone mineral density and oral health in adult hypophosphatasia?- A single center experience.Orphanet journal of rare diseases · 2025Article
- Review
- A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage.Children (Basel, Switzerland) · 2025Article
- Cutaneous lesions in the setting of hypophosphatasia.JAAD case reports · 2023Article
- What the pediatric endocrinologist needs to know about skeletal dysplasia, a primer.Frontiers in pediatrics · 2023Review
- The odontoblastic differentiation of dental mesenchymal stem cells: molecular regulation mechanism and related genetic syndromes.Frontiers in cell and developmental biology · 2023Review
- Identifying adult hypophosphatasia in the rheumatology unit.Orphanet journal of rare diseases · 2022Article
- Review
- Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Educational Case: Osteogenesis imperfecta.Academic pathology · 2022Article
- Article
- Active search of adult patients with persistently low serum alkaline phosphatase levels for the diagnosis of hypophosphatasia.Archives of endocrinology and metabolism · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewHypophosphatasia (HPP) is a rare genetic disorder caused by mutations of the ALPL gene. ALPL encodes the tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Consequently, bone mineralization is decreased leading to fractures, arthralgia, and extra-skeletal manifestations including tissue calcification, respiratory failure, and neurological complications. This review summarizes the most important clinical findings, diagnosis, and treatment options for HPP. RECENT
findingsAsfotase alfa is a recombinant human alkaline phosphatase, used as treatment for the underlying cause of HPP. Asfotase alfa enhances the survival in life-threatening HPP and improves bone mineralization, muscle strength, and pulmonary function. However, discontinuation of asfotase alfa leads to reappearance of bone hypomineralization. Due to its varied manifestations, HPP often mimics rheumatological and other bone diseases, thereby delaying its diagnosis. Asfotase alfa, a recombinant alkaline phosphatase, is available for the long-term enzyme replacement therapy in patients with pediatric-onset HPP to treat the bone manifestations of the disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.