ArticleFrontiers in pediatrics2019
Progressive Liver Disease in Patients With Ataxia Telangiectasia.
Article in Frontiers in pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses 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.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Biomarkers in Ataxia-Telangiectasia: a Systematic Review.Journal of neurology · 2025Pooled it
- Pooled it
- Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.Journal of clinical immunology · 2021Trial
- Recent Advances in Therapy for the Neurodegenerative Disorder Ataxia-Telangiectasia.International journal of molecular sciences · 2026Review
- Plasma Copper and Zinc Levels in Ataxia-Telangiectasia.International journal of molecular sciences · 2026Article
- Nutritional status and metabolic alterations in patients with ataxia-telangiectasia.Orphanet journal of rare diseases · 2025Article
- Quantification of liver fat fraction using T1-weighted mDixon MRI in young patients with ataxia telangiectasia undergoing whole-body MRI: an exploratory study.Orphanet journal of rare diseases · 2025Article
- Loss of CD98HC phosphorylation by ATM impairs antiporter trafficking and drives glutamate toxicity in Ataxia telangiectasia.Nature communications · 2025Article
- Article
- A child with polyarthritis and chronic lung disease: a case report of ataxia-telangiectasia.Italian journal of pediatrics · 2023Article
- Plasma metabolomics identifies metabolic alterations associated with the growth and development of cat.Animal models and experimental medicine · 2023Article
- Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia.Orphanet journal of rare diseases · 2023Article
- Review
- Liver Assessment in Patients with Ataxia-Telangiectasia: Transient Elastography Detects Early Stages of Steatosis and Fibrosis.Canadian journal of gastroenterology & hepatology · 2023Article
- The ataxia-telangiectasia mutated gene product regulates the cellular acid-labile sulfide fraction.DNA repair · 2022Article
- Movement Disorders and the Gut: A Review.Movement disorders clinical practice · 2022Review
- Imaging in children with ataxia-telangiectasia-The radiologist's approach.Frontiers in pediatrics · 2022Article
- Infections and immune dysregulation in ataxia-telangiectasia children with hyper-IgM and non-hyper-IgM phenotypes: A single-center experience.Frontiers in pediatrics · 2022Article
- Hepatic Regulator of G Protein Signaling 6 (RGS6) drives non-alcoholic fatty liver disease by promoting oxidative stress and ATM-dependent cell death.Redox biology · 2021Article
- Movement Disorders and Liver Disease.Movement disorders clinical practice · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ataxia telangiectasia (A-T) is a devastating multi-system disorder characterized by progressive cerebellar ataxia, immunodeficiency, genetic instability, premature aging and growth retardation. Due to better care the patients get older than in the past and new disease entities like disturbed glucose tolerance and liver disease emerge. The objective of the present investigation is to determine the evolution of liver disease and its relation to age and neurological deterioration. The study included 67 patients aged 1 to 38 years with classical A-T. At least two measurements of liver enzymes were performed within a minimum interval of 6 months in 56 patients. The median follow-up period was 4 years (1-16 years). A total of 316 liver enzyme measurements were performed. For analysis, patients were divided into two age groups (Group 1: <12 years; group 2: ≥12 years). In addition, ultrasound of the liver and Klockgether Ataxia Score (KAS) were analyzed. We found significantly higher levels of alpha-fetoprotein (AFP) (226,8 ± 20.87 ng/ml vs. 565,1 ± 24.3 ng/ml,
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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.