ReviewBritish journal of clinical pharmacology2019
Genetic approaches to metabolic bone diseases.
Review in British journal of clinical pharmacology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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
19 citing papers in PubMed, 30 citations in OpenAlex.
- [Metabolic bone disorders: what the internist must not overlook].Innere Medizin (Heidelberg, Germany) · 2026Review
- Transcriptomic and proteomic analysis of osteogenesis imperfecta disease-specific induced pluripotent stem cells.BMC medical genomics · 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
- Bone Health for Gynaecologists.Medicina (Kaunas, Lithuania) · 2025Review
- SP7: from Bone Development to Skeletal Disease.Current osteoporosis reports · 2023Review
- Genetics of monogenic disorders of calcium and bone metabolism.Clinical endocrinology · 2022Review
- Early-Onset Osteoporosis.Calcified tissue international · 2022Review
- Secondary Osteoporosis and Metabolic Bone Diseases.Journal of clinical medicine · 2022Review
- Targeting TGF-β for treatment of osteogenesis imperfecta.The Journal of clinical investigation · 2022Article
- Investigating factors of metabolic bone disease in baboons (Papio spp.) using museum collections.American journal of biological anthropology · 2022Article
- Effect of Urolithin A on Bone Repair in Mice with Bone Defects.Tissue engineering and regenerative medicine · 2022Article
- Genetics and Epigenetics of Bone Remodeling and Metabolic Bone Diseases.International journal of molecular sciences · 2022Review
- The Emerging Role of MicroRNAs in Bone Diseases and Their Therapeutic Potential.Molecules (Basel, Switzerland) · 2021Review
- X-linked hypophosphatemic osteomalacia with PHEX mutation presenting late in Pakistan.Annals of medicine and surgery (2012) · 2021Article
- Targeted next generation sequencing of nine osteoporosis-related genes in the Wnt signaling pathway among Chinese postmenopausal women.Endocrine · 2020Article
- Review
- Drugs for the treatment of metabolic bone diseases.British journal of clinical pharmacology · 2019Article
- Genetic approaches to metabolic bone diseases.British journal of clinical pharmacology · 2019Review
- Review
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 4 institutions in 2 countries.
Funding
Abstract
Metabolic bone diseases comprise a diverse group of disorders characterized by alterations in skeletal homeostasis, and are often associated with abnormal circulating concentrations of calcium, phosphate or vitamin D metabolites. These diseases commonly have a genetic basis and represent either a monogenic disorder due to a germline or somatic single gene mutation, or an oligogenic or polygenic disorder that involves variants in more than one gene. Germline single gene mutations causing Mendelian diseases typically have a high penetrance, whereas the genetic variations causing oligogenic or polygenic disorders are each associated with smaller effects with additional contributions from environmental factors. Recognition of familial monogenic disorders is of clinical importance to facilitate timely investigations and management of the patient and any affected relatives. The diagnosis of monogenic metabolic bone disease requires careful clinical evaluation of the large diversity of symptoms and signs associated with these disorders. Thus, the clinician must pursue a systematic approach beginning with a detailed history and physical examination, followed by appropriate laboratory and skeletal imaging evaluations. Finally, the clinician must understand the increasing number and complexity of molecular genetic tests available to ensure their appropriate use and interpretation.
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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.