ArticleMolecular genetics and metabolism reports2022
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan.
Article in Molecular genetics and metabolism reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 23 citations in OpenAlex.
- Progress and Prospects of Newborn Screening in China.International journal of neonatal screening · 2026Review
- Attitudes Toward Sex-Specific Versus Universal Newborn Screening for X-Linked Adrenoleukodystrophy in Hong Kong.International journal of neonatal screening · 2026Article
- The complex lipidome as a driver of tissue-specific pathology in adrenoleukodystrophy.Molecular neurodegeneration · 2026Review
- The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy.Journal of inherited metabolic disease · 2026Article
- Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative.Neurology. Genetics · 2025Review
- Differentiating Incidental From Pathologic Brain MRI Findings in Asymptomatic Boys With X-Linked Adrenoleukodystrophy: A Multicenter Study.Neurology · 2025Article
- A Novel Missense Variant of the ABCD1 Gene in X-Linked Adrenoleukodystrophy in Chinese Family.Molecular genetics & genomic medicine · 2025Article
- Gene Therapy of Adrenomyeloneuropathy: Challenges, Target Cells, and Prospectives.Biomedicines · 2025Review
- 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
- Newborn screening and rapid genomic diagnosis of neuromuscular diseases.Journal of neuromuscular diseases · 2025Review
- Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report.Molecular genetics and metabolism reports · 2024Article
- Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences.International journal of neonatal screening · 2024Article
- Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Childhood Cerebral Adrenoleukodystrophy: Case Report and Literature Review Advocating for Newborn Screening.Degenerative neurological and neuromuscular disease · 2024Article
- Attitudes of Patients with Adrenoleukodystrophy towards Sex-Specific Newborn Screening.International journal of neonatal screening · 2023Article
- Addison's Disease: Diagnosis and Management Strategies.International journal of general medicine · 2023Review
- Sex-specific newborn screening for X-linked adrenoleukodystrophy.Journal of inherited metabolic disease · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder caused by variants in the Methods: An NBS program for ALD was performed by a two-tiered dried blood spot (DBS) lysophosphatidylcholine C26:0 (C26:0-LPC) concentration analysis. Results: We identified 12 males and 10 females with Conclusion: Screening for ALD has been added to the NBS program in Taiwan with a high degree of success. The screening algorithm revealed a high proportion of null variants in cases found by NBS in Taiwan, a subset of patients who may have earlier disease onset. We also demonstrate the feasibility of combining the diagnosis of ALD and other peroxisomal disorders into one screening algorithm.
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.