ArticleJournal of the Endocrine Society2019
Bile Acid Synthesis Disorder Masquerading as Intractable Vitamin D-Deficiency Rickets.
Article in Journal of the Endocrine Society, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review.Orphanet journal of rare diseases · 2024Pooled it
- Delayed diagnosis of 3β-HSD7 deficiency in adolescence: Two case reports and review of the literature.JPGN reports · 2026Article
- Case Report: Primary bile acid synthesis defect: first cases series from Tunisia.Frontiers in pediatrics · 2026Article
- Gut microbiota dysbiosis in rheumatoid arthritis: mechanisms linking intestinal barrier dysfunction to synovial inflammation.Frontiers in immunology · 2026Review
- Article
- Fat Malabsorption and Ursodeoxycholic Acid Treatment in Children With Reduced Organic Solute Transporter-α (JPGN reports · 2022Article
- Cold-Induced Lipoprotein Clearance inFrontiers in cell and developmental biology · 2022Article
- The bridge of the gut-joint axis: Gut microbial metabolites in rheumatoid arthritis.Frontiers in immunology · 2022Review
- Vitamin D, rickets and child abuse: controversies and evidence.Pediatric radiology · 2021Review
- A metabolomic-based study on disturbance of bile acids metabolism induced by intratracheal instillation of nickel oxide nanoparticles in rats.Toxicology research · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Vitamin D-deficiency rickets, not responding to large treatment doses of oral vitamin D, suggest rare receptor mutations, malabsorption, or hepatobiliary dysfunction. We present a set of twins of Hispanic origin who presented with refractory vitamin D-deficiency rickets and failure to thrive (FTT) at 6 months of age. On follow-up, mild elevations in serum alanine transaminases and normal aspartate aminotransferase were noted. Subsequently, patients manifested fat-soluble vitamin deficiencies. More targeted evaluations revealed a diagnosis of 3
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.