ReviewGenes2022
Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management.
Review in Genes, 2022. 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
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
28 citing papers in PubMed, 32 citations in OpenAlex.
- Higher Sedentary Behaviors and Lower Levels of Specific Knowledge Are Risk Factors for Physical Activity-Related Injuries in Saudi Adolescents.International journal of environmental research and public health · 2023Trial
- Ocular Clues in Musculoskeletal Disorders: A Narrative Review for Orthopaedic Specialists.Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews · 2026Review
- Dorsal Root Ganglion-Targeted DNA Origami Delivery of IL1RN for Skeletal Growth and Repair.Pharmaceutics · 2026Article
- Genetic Bone Diseases: A Scoping Review of Pathology, Symptoms, Diagnosis, Treatment, and New Horizons.Advanced genetics (Hoboken, N.J.) · 2026Review
- Zoledronic Acid in the Management of Melorheostosis of Radius and Ulna - A Rare Case Report with Literature Review.Journal of orthopaedic case reports · 2026Article
- Interventions for metabolic bone disease of prematurity: A systematic review and meta-analysis.Metabolism open · 2026Article
- Current advances of bone homeostasis imbalance in the cause of hereditary metabolic bone diseases.EFORT open reviews · 2026Review
- Spectrum of Osteoporosis Etiologies with Associated Vertebral Compression Fractures in Children: Analysis of 11 Cases.Journal of clinical medicine · 2025Article
- Article
- Effects of asfotase alfa on fracture healing of adult patient with hypophosphatasia and literature review.Orphanet journal of rare diseases · 2025Review
- The Role of Genetics in Human Oral Health: A Systematic-Narrative Review.Dentistry journal · 2025Review
- Bone disease and oromaxillofacial disorders: a cross- sectional study in a Tanzanian pediatric population.Orphanet journal of rare diseases · 2025Article
- Karyotyping with amniotic fluid in 6,572 pregnant women and pregnancy outcomes--A single-center retrospective study.PloS one · 2025Article
- Comprehensive treatment approaches for skeletal deformities in hypophosphatasia: a case study ofFrontiers in pediatrics · 2025Article
- Article
- Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders.Advances in rheumatology (London, England) · 2024Review
- A novel proteomic signature of osteoclast differentiation unveils the deubiquitinase UCHL1 as a necessary osteoclastogenic driver.Scientific reports · 2024Article
- Transient Generalized Osteosclerosis in a Newborn Mimicking Congenital Osteopetrosis with Negative Comprehensive Genetic Workup: A Case Report.Journal of pediatrics. Clinical practice · 2024Article
- Emerging Landscape of Osteogenesis Imperfecta Pathogenesis and Therapeutic Approaches.ACS pharmacology & translational science · 2024Review
- Role of genetics and the environment in the etiology of congenital diaphragmatic hernia.World journal of pediatric surgery · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal homeostasis and encompass one of the most diverse groups among rare diseases. In this review, we examine 25 selected hereditary metabolic bone diseases and recognized genetic variations of 78 genes that represent each of the three groups, including sclerosing bone disorders, disorders of defective bone mineralization and disorder of bone matrix and cartilage formation. We also review pathophysiology, manifestation and treatment for each disease. Advances in molecular genetics and basic sciences has led to accurate genetic diagnosis and novel effective therapeutic strategies for some diseases. For other diseases, the genetic basis and pathophysiology remain unclear. Further researches are therefore crucial to innovate ways to overcome diagnostic challenges and develop effective treatment options for these orphan diseases.
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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.