ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 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
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
68 citing papers in PubMed, 1 synthesis or guideline pooled it.
- MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.Journal of inherited metabolic disease · 2021Guideline
- Outcomes of an optimized ciclosporin-free haploidentical HSCT protocol in paediatric patients with cerebral adrenoleukodystrophy.British journal of haematology · 2026Article
- Attitudes Toward Sex-Specific Versus Universal Newborn Screening for X-Linked Adrenoleukodystrophy in Hong Kong.International journal of neonatal screening · 2026Article
- Plasma Very-Long-Chain Fatty Acids in X-Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort.Journal of clinical laboratory analysis · 2026Article
- Profiling of fatty acids and lipids in animal and human tissues yields new leads for disease progression biomarkers of X-linked adrenoleukodystrophy.The Journal of biological chemistry · 2026Article
- Primary adrenal insufficiency resulting in diagnosis of rareJCEM case reports · 2026Article
- A lipidomics roadmap: from basic research to societal challenges.Nature communications · 2026Review
- Seizures in childhood cerebral adrenoleukodystrophy.Developmental medicine and child neurology · 2025Observational
- A Qualitative Study on Parental Experiences with Genetic Counseling After a Positive Newborn Screen for Recently Added Conditions on the Recommended Uniform Screening Panel (RUSP).International journal of neonatal screening · 2025Article
- Gene Therapy of Adrenomyeloneuropathy: Challenges, Target Cells, and Prospectives.Biomedicines · 2025Review
- Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.Orphanet journal of rare diseases · 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
- Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases.Journal of inherited metabolic disease · 2025Review
- Newborn screening and rapid genomic diagnosis of neuromuscular diseases.Journal of neuromuscular diseases · 2025Review
- Estimation ofGenetics in medicine open · 2025Article
- Genotypic and Phenotypic Characteristics of Pediatric X-Adrenoleukodystrophy in a Chinese Cohort.Neuropsychiatric disease and treatment · 2025Article
- From gene to therapy: a review of deciphering the role of ABCD1 in combating X-Linked adrenoleukodystrophy.Lipids in health and disease · 2024Review
- Adrenal insufficiency and the use of mineralocorticoid treatment in male patients with adrenoleukodystrophy; a retrospective analysis of an institutional database.BMC endocrine disorders · 2024Article
- Approaches to diagnosis for individuals with a suspected inherited white matter disorder.Handbook of clinical neurology · 2024Review
- Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.The Journal of clinical endocrinology and metabolism · 2023Article
8 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
The secretary of the US Department of Health and Human Services in February 2016 recommended that X-linked adrenoleukodystrophy (X-ALD) be added to the recommended uniform screening panel for state newborn screening programs. This decision was informed by data presented on the accuracy of screening from New York, the only state that currently offers X-ALD newborn screening, and published and unpublished data showing health benefits of earlier treatment (hematopoietic stem cell transplantation and adrenal hormone replacement therapy) for the childhood cerebral form of X-ALD. X-ALD newborn screening also identifies individuals with later-onset disease, but poor genotype-phenotype correlation makes predicting health outcomes difficult and might increase the risk of unnecessary treatment. Few data are available regarding the harms of screening and presymptomatic identification. Significant challenges exist for implementing comprehensive X-ALD newborn screening, including incorporation of the test, coordinating follow-up diagnostic and treatment care, and coordination of extended family testing after case identification.Genet Med 19 1, 121-126.
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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.