ReviewOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2024
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
Review in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 55 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
55 citing papers in PubMed, 68 citations in OpenAlex.
- A randomized Phase 1b trial evaluating the pharmacodynamics of ilofotase alfa in adults with hypophosphatasia.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Trial
- Prevalence of hypophosphatasia in general and selected patient populations: a systematic review.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2026Review
- Osteoglycin and Sclerostin Imbalance in Hypophosphatasia: Bone-Derived Markers of Mineralization and Systemic Involvement.International journal of molecular sciences · 2026Article
- Low alkaline phosphatase in adults: implications for the diagnosis of hypophosphatasia during evaluation for osteoporosis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2026Article
- Persistently low serum alkaline phosphatase in adults: prevalence and clinical characteristics in a large tertiary care hospital.Orphanet journal of rare diseases · 2026Article
- Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- Hypophosphatasia and collagen VI-related muscular dystrophy presenting with gait disturbance and recurrent fractures.JCEM case reports · 2026Article
- Identification of hypophosphatasia in adults with persistent hypophosphatasemia: clinical-genetic characterization and a validated diagnostic tool.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2026Article
- External validation of the proposed diagnostic criteria for hypophosphatasia in adults of a Spanish cohort.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2026Article
- Hypophosphatasia-pathophysiological understanding, preclinical data looking beyond the skeleton, and upcoming treatments.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Review
- Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Hypophosphatasia: low penetrance of pathogenic and likely-pathogenic ALPL variants identified through an unselected biorepository.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Article
- Efzimfotase Alfa Improves Respiratory Capacity in Muscle Tissue From a Mouse Model of HPP.JIMD reports · 2026Article
- Article
- Atypical Fracture From Bisphosphonate Use in Hypophosphatasia With Improved Bone Response to Teriparatide Therapy.JCEM case reports · 2026Article
- Case Report: Atypical femoral fractures in adult-onset hypophosphatasia treated with low-dose asfotase alfa and adjunctive teriparatide therapy.Frontiers in endocrinology · 2026Article
- Prevalence of clinical manifestations among patients with hypophosphatasia in Central and Eastern European countries.Frontiers in endocrinology · 2026Article
- Article
- Natural history of hypophosphatasia in Chinese patients younger than 18 years: a single-center retrospective observational study.Frontiers in endocrinology · 2026Observational
Corrections and comments
- Erratum issued
Authors and funding
32 authors at 19 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThis manuscript provides a summary of the current evidence to support the criteria for diagnosing a child or adult with hypophosphatasia (HPP). The diagnosis of HPP is made on the basis of integrating clinical features, laboratory profile, radiographic features of the condition, and DNA analysis identifying the presence of a pathogenic variant of the tissue nonspecific alkaline phosphatase gene (ALPL). Often, the diagnosis of HPP is significantly delayed in both adults and children, and updated diagnostic criteria are required to keep pace with our evolving understanding regarding the relationship between ALPL genotype and associated HPP clinical features.
methodsAn International Working Group (IWG) on HPP was formed, comprised of a multidisciplinary team of experts from Europe and North America with expertise in the diagnosis and management of patients with HPP. Methodologists (Romina Brignardello-Petersen and Gordon Guyatt) and their team supported the IWG and conducted systematic reviews following the GRADE methodology, and this provided the basis for the recommendations.
resultsThe IWG completed systematic reviews of the literature, including case reports and expert opinion papers describing the phenotype of patients with HPP. The published data are largely retrospective and include a relatively small number of patients with this rare condition. It is anticipated that further knowledge will lead to improvement in the quality of genotype-phenotype reporting in this condition.
conclusionFollowing consensus meetings, agreement was reached regarding the major and minor criteria that can assist in establishing a clinical diagnosis of HPP in adults and children.
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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.