ArticleFrontiers in endocrinology2022
Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population.
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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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.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Vitamin D-dependent Rickets Type 1A: Recognizing Clinical Clues to Avoid Delayed Diagnosis.Cureus · 2026Article
- The Molecular Biology of Placental Transport of Calcium to the Human Foetus.International journal of molecular sciences · 2025Review
- HeterozygousFrontiers in physiology · 2025Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Vitamin D Hydroxylation-deficient Rickets Type 1A Misdiagnosed as Normocalcemic Primary Hyperparathyroidism.JCEM case reports · 2023Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Vitamin D-dependant rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in the Methods: A genetic screening test was developed and validated for the Results: A total of 2000 newborns were tested for VDDR1A. Most families (96.5%) accepted the genetic test. We found a carrier rate of 1/29 for the c.262delG variant in our cohort, which is suggestive of a founder effect. We identified one child affected with VDDR1A and treatment was initiated before the onset of clinical manifestations. On average, children with VDDR1A were diagnosed at 13.8 ± 5 months of age, they had a significant failure to thrive at diagnosis, among other harmful health consequences. Conclusion: Our study showed that in our population, the newborn genetic screening program is safe and feasible, it has high acceptability, and it is efficient to identify affected children. VDDR1A health consequences can be prevented by early initiation of treatment. Therefore, screening programs should be available for populations where it is deemed as beneficial from a public health perspective.
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Registered trials
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