ReviewEndocrinology and metabolism clinics of North America2010
Genetic disorders and defects in vitamin d action.
Review in Endocrinology and metabolism clinics of North America, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 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
55 citing papers in PubMed, 166 citations in OpenAlex.
- The association of 25(OH)D with blood pressure, pulse pressure and carotid-radial pulse wave velocity in African women.PloS one · 2013Trial
- The role of vitamin D receptor signaling in hair follicle health and alopecia: Current understanding and therapeutic implications.Journal of cell communication and signaling · 2026Review
- Feline vitamin D-dependent rickets type 2 caused by a missense variant in the vitamin D receptor gene.The Journal of veterinary medical science · 2025Article
- Novel Variants and Clinical Heterogeneity in Pediatric Calcium Metabolism Disorders Identified Through High-Yield Tiered Genetic Testing in a Taiwanese Cohort.Medicina (Kaunas, Lithuania) · 2025Article
- Clinical and Laboratory Characteristics of Patients with Genetic Rickets: A Single-Center Experience with Long-Term Outcomes.Turkish archives of pediatrics · 2025Article
- Physiological Basis for Using Vitamin D to Improve Health.Biomedicines · 2023Article
- Robust osteogenic efficacy of 2α-heteroarylalkyl vitamin D analogue AH-1 in VDR (R270L) hereditary vitamin D-dependent rickets model rats.Scientific reports · 2022Article
- Ezh2 knockout in mesenchymal cells causes enamel hyper-mineralization.Biochemical and biophysical research communications · 2021Article
- Recommendations on the measurement and the clinical use of vitamin D metabolites and vitamin D binding protein - A position paper from the IFCC Committee on bone metabolism.Clinica chimica acta; international journal of clinical chemistry · 2021Review
- Diagnosis and management of hypocalcemia.Endocrine · 2020Review
- Use of calcimimetics in children with normal kidney function.Pediatric nephrology (Berlin, Germany) · 2019Review
- Vitamin D Binding Protein and the Biological Activity of Vitamin D.Frontiers in endocrinology · 2019Review
- [Osteomalacia-Clinical aspects, diagnostics and treatment].Zeitschrift fur Rheumatologie · 2018Article
- Tooth whitening for the under-18-year-old patient.British dental journal · 2018Article
- Genetics of Refractory Rickets: Identification of NovelJournal of pediatric genetics · 2018Review
- Acute respiratory failure and generalized hypotonia secondary to vitamin D dependent rickets type 1A.International journal of pediatrics & adolescent medicine · 2018Article
- Vitamin D in the Middle East and North Africa.Bone reports · 2018Article
- Rickets presenting as gross motor delay in twin girls.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2018Article
- Vitamin D-Resistant Rickets and Cinacalcet-One More Favorable Experience.Frontiers in pediatrics · 2018Article
- Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings.International journal of endocrinology and metabolism · 2017Article
Corrections and comments
- Reprinted as
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Two rare genetic diseases can cause rickets in children. The critical enzyme to synthesize calcitriol from 25-hydroxyvitamin D, the circulating hormone precursor, is 25-hydroxyvitamin D-1alpha-hydroxylase (1alpha-hydroxylase). When this enzyme is defective and calcitriol can no longer be synthesized, the disease 1alpha-hydroxylase deficiency develops. The disease is also known as vitamin D-dependent rickets type 1 or pseudovitamin D deficiency rickets. When the VDR is defective, the disease hereditary vitamin D-resistant rickets, also known as vitamin D-dependent rickets type 2, develops. Both diseases are rare autosomal recessive disorders characterized by hypocalcemia, secondary hyperparathyroidism, and early onset severe rickets. In this article, these 2 genetic childhood diseases, which present similarly with hypocalcemia and rickets in infancy, are discussed and compared.
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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.