ArticleJournal of lipid research2016
Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism.
Article in Journal of lipid research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 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
30 citing papers in PubMed, 73 citations in OpenAlex.
- Sertraline Treatment Can Mimic Niemann-Pick Type C Biomarker Profile: A Diagnostic Pitfall.Annals of clinical and translational neurology · 2026Article
- Conserved and Divergent Phytochemical Profiles in Native and MicropropagatedPlants (Basel, Switzerland) · 2025Article
- Advances in mass spectrometry of lipids for the investigation of Niemann-pick type C disease.Lipids in health and disease · 2025Review
- Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening.International journal of neonatal screening · 2025Article
- Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.Nutrients · 2024Review
- Determination of selected oxysterol levels, oxidative stress, and macrophage activation indicators in children and adolescents with familial hypercholesterolemia.Lipids in health and disease · 2024Article
- Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.Antioxidants (Basel, Switzerland) · 2024Article
- Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases.Journal of clinical medicine · 2024Review
- Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective.Frontiers in pediatrics · 2023Review
- A Novel Variant in theBalkan journal of medical genetics : BJMG · 2022Article
- Hematological Findings in Lysosomal Storage Disorders: A Perspective from the Medical Laboratory.EJIFCC · 2022Article
- Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis.Molecular genetics and metabolism reports · 2022Article
- Presence of cholesterol oxides in milk chocolates and their correlation with milk powder freshness.PloS one · 2022Article
- Advancing Diagnosis and Treatment of Niemann-Pick C disease through Biomarker Discovery.Exploration of neuroprotective therapy · 2021Article
- A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1.Molecular genetics and metabolism reports · 2021Article
- Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease.Orphanet journal of rare diseases · 2021Article
- Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.Molecular genetics and metabolism · 2020Article
- 7-Ketocholesterol in disease and aging.Redox biology · 2020Review
- A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS.PloS one · 2020Article
- Metabolism of Non-Enzymatically Derived Oxysterols: Clues from sterol metabolic disorders.Free radical biology & medicine · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Oxysterols are intermediates of cholesterol metabolism and are generated from cholesterol via either enzymatic or nonenzymatic pathways under oxidative stress conditions. Cholestan-3β,5α,6β-triol (C-triol) and 7-ketocholesterol (7-KC) have been proposed as new biomarkers for the diagnosis of Niemann-Pick type C (NP-C) disease, representing an alternative tool to the invasive and time-consuming method of fibroblast filipin test. To test the efficacy of plasma oxysterol determination for the diagnosis of NP-C, we systematically screened oxysterol levels in patients affected by different inherited disorders related with cholesterol metabolism, which included Niemann-Pick type B (NP-B) disease, lysosomal acid lipase (LAL) deficiency, Smith-Lemli-Opitz syndrome (SLOS), congenital familial hypercholesterolemia (FH), and sitosterolemia (SITO). As expected, NP-C patients showed significant increase of both C-triol and 7-KC. Strong increase of both oxysterols was observed in NP-B and less pronounced in LAL deficiency. In SLOS, only 7-KC was markedly increased, whereas in both FH and in SITO, oxysterol concentrations were normal. Interestingly, in NP-C alone, we observed that plasma oxysterols correlate negatively with patient's age and positively with serum total bilirubin, suggesting the potential relationship between oxysterol levels and hepatic disease status. Our results indicate that oxysterols are reliable and sensitive biomarkers of NP-C.
Indexed as
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.