ArticleMolecular genetics and metabolism reports2021
Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy.
Article in Molecular genetics and metabolism reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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
7 citing papers in PubMed, 12 citations in OpenAlex.
- Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study.International journal of neonatal screening · 2025Article
- Optimization of the Performance of Newborn Screening for X-Linked Adrenoleukodystrophy by Flow Injection Analysis Tandem Mass Spectrometry.International journal of neonatal screening · 2025Article
- Clinical, biochemical & molecular spectrum of adrenoleukodystrophy: A single centre experience.The Indian journal of medical research · 2025Article
- Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Childhood Cerebral Adrenoleukodystrophy: Case Report and Literature Review Advocating for Newborn Screening.Degenerative neurological and neuromuscular disease · 2024Article
- Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients.Orphanet journal of rare diseases · 2023Article
- Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.Frontiers in neurology · 2022Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We measured C24:0 and C26:0-carnitines in dried blood spots by flow injection analysis-tandem mass spectrometry method to evaluate whether they can be used as markers for newborn screening of X-linked Adrenoleukodystrophy (X-ALD). We found that C26:0-carnitine was 95.1% and 44.7% sensitive for identifying male X-ALD cases and heterozygous females, respectively. False negatives were found for C24:0-carnitine (11/82) and C26:0-carnitine (4/82). We conclude that C24:0 and C26:0-carnitines may not be reliable markers for X-ALD screening.
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Registered trials
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