ArticleMolecular genetics and metabolism reports2020
Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
15 citing papers in PubMed, 19 citations in OpenAlex.
- Intrafamilial phenotypic variability in hypophosphatasia: evidence from two families and the literature.Frontiers in endocrinology · 2026Review
- The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data.Orphanet journal of rare diseases · 2025Review
- Revisiting the Genetics of Hypophosphatasia.Journal of inherited metabolic disease · 2025Review
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- Multigenerational genetic inheritance and clinical characteristics of the rare disease hypophosphatasia in 6 families: A case series.Bone reports · 2025Article
- Oro-Dental Characteristics in Patients With Adult-Onset Hypophosphatasia Compared to a Healthy Control Group-A Case-Control Study.Journal of oral rehabilitation · 2025Article
- A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United States.Journal of endocrinological investigation · 2024Article
- The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion.Journal of endocrinological investigation · 2024Article
- Transition of young adults with metabolic bone diseases to adult care.Frontiers in endocrinology · 2023Review
- Impact of discontinuing 5 years of enzyme replacement treatment in a cohort of 6 adults with hypophosphatasia: A case series.Bone reports · 2022Article
- Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry.Orphanet journal of rare diseases · 2022Article
- Hypophosphatasia.Journal of clinical medicine · 2021Review
- Gene Therapy Using Adeno-Associated Virus Serotype 8 Encoding TNAP-DJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2021Article
- TNAP as a New Player in Chronic Inflammatory Conditions and Metabolism.International journal of molecular sciences · 2021Review
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 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypophosphatasia (HPP) is an inherited metabolic condition caused by pathogenic mutations in the
Indexed as
Identifiers
What OpenQuestion holds
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.