ArticleFrontiers in endocrinology2022
Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations.
Article in Frontiers in endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Impact of clinical symptoms on quality of life in adult hypophosphatasia: a monocentric study in northern Germany.JBMR plus · 2026Article
- Vitamin B6 challenge as a tool for detecting ALPL mutations and diagnosing hypophosphatasia.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2025Article
- Pain, quality of life, and integral management in a cohort of patients diagnosed with hypophosphatasia in Colombia.Orphanet journal of rare diseases · 2024Article
- Hypophosphatasia Presenting as a Chronic Diffuse Pain Syndrome with Extra-Articular Calcifications.Journal of clinical medicine · 2024Review
- Diagnostic Approach to Patients with Low Serum Alkaline Phosphatase.Calcified tissue international · 2023Review
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Low serum alkaline phosphatase levels are the hallmark of hypophosphatasia, a disorder due to pathogenic variants of the Methods: We studied 35 adult patients with persistently low alkaline phosphatase unrelated to secondary acquired causes who had Results: The mean BPI intensity and interference scores were higher in the patient group (p=0.04 and 0.004, respectively). All domains of the HAQ instrument tended to score better in the control group, with significant differences in the "reach" score (p=0.037) and the overall mean score (0.23 vs 0.09; p=0.029). Patients scored worse than controls in several SF-36 dimensions (Role physical, p=0.039; Bodily pain p=0.046; Role emotional, p=0.025). Patients with and without pathogenic variants scored similarly across all tests, without between-group significant differences. Conclusions: Patients with persistently low levels of alkaline phosphatase have significantly worse scores in body pain and other health-related quality of life dimensions, without differences between patients with and without pathogenic variants identified in
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