ArticleJournal of inherited metabolic disease2004
Glutaric aciduria type I: outcome in the Republic of Ireland.
Article in Journal of inherited metabolic disease, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 73 citations in OpenAlex.
- Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).Journal of inherited metabolic disease · 2007Guideline
- Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.Journal of inherited metabolic disease · 2013Trial
- Cerebral White Matter Alterations Associated With Oligodendrocyte Vulnerability in Organic Acidurias: Insights in Glutaric Aciduria Type I.Neurotoxicity research · 2024Review
- Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.Orphanet journal of rare diseases · 2023Article
- Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients.JIMD reports · 2022Article
- Orthopaedic manifestations of glutaric acidemia Type 1.Journal of children's orthopaedics · 2020Article
- Characterization of novelMolecular genetics and metabolism reports · 2019Article
- Organic acidurias in adults: late complications and management.Journal of inherited metabolic disease · 2018Review
- Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1.JIMD reports · 2018Article
- Impairment of astrocytic glutaminolysis in glutaric aciduria type I.Journal of inherited metabolic disease · 2018Article
- Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Journal of inherited metabolic disease · 2017Review
- A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I.Orphanet journal of rare diseases · 2015Article
- Neurodevelopmental profiles of children with glutaric aciduria type I diagnosed by newborn screening: a follow-up case series.JIMD reports · 2015Article
- Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I.Acta neuropathologica communications · 2014Article
- Mechanistic effects of amino acids and glucose in a novel glutaric aciduria type 1 cell model.PloS one · 2014Article
- Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis.Orphanet journal of rare diseases · 2013Article
- Diagnosis and management of glutaric aciduria type I--revised recommendations.Journal of inherited metabolic disease · 2011Review
- Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry.Journal of inherited metabolic disease · 2011Article
- Cognitive, behavioural and adaptive profiles of children with glutaric aciduria type I detected through newborn screening.Journal of inherited metabolic disease · 2009Article
- Glutaric aciduria type I: outcome following detection by newborn screening.Journal of inherited metabolic disease · 2008Article
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 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Twenty-one patients have been diagnosed with glutaric aciduria type I over a 16-year period in the Republic of Ireland, 11 following clinical presentation and 10 following a high-risk screen. Nineteen have been managed with diet. Eight patients have died, of whom 7 were diagnosed clinically. Six had dystonic and one spastic cerebral palsy. Of the 11 patients who did not have cerebral palsy, 10 were diagnosed following a high-risk screen. Seven of the 11 have no abnormal neurological signs; 6 of the 7 have abnormal CT or MRI findings; and no case of striatal degeneration has occurred during the past 14 years in the high-risk screened group.
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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.