ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Should states adopt newborn screening for early infantile Krabbe disease?
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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
7 citing papers in PubMed, 16 citations in OpenAlex.
- Neuroimmunology in globoid cell leukodystrophy: A comprehensive review including treatments, models, and neuroimmune mechanisms underlying neuropathology.Journal of neuroimmunology · 2025Review
- A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease.International journal of neonatal screening · 2022Review
- An online compendium of treatable genetic disorders.American journal of medical genetics. Part C, Seminars in medical genetics · 2021Article
- The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.Orphanet journal of rare diseases · 2018Review
- Lysosomal Re-acidification Prevents Lysosphingolipid-Induced Lysosomal Impairment and Cellular Toxicity.PLoS biology · 2016Article
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The published experience to date regarding implementing NBS for EIKD has been dramatically enhanced by the data presented in this issue by Orsini et al. Although much has been written about the potential harms to individuals with an abnormal NBS for EIKD who do not have EIKD, several commentators have also asked whether screening provides a benefit when it leads to early identification of the disorder. Orsini and colleagues’ data suggest that the state-mandated, multimillion-dollar NBS program for EIKD in New York has failed to provide significant benefit to children with EIKD. Indeed, in addition to the potential harm to families receiving false-positive test results, NBS for EIKD appears to have resulted in a reduction in survival in individuals who have the disease. The data from the New York program suggest that NBS for EIKD should be abandoned, pending the development of improved screening or therapies shown to confer both survival and quality-of-life benefits over supportive care. The results of this experience suggest that research efforts should be focused on improving presymptomatic treatment outcomes in children identified by NBS prior to the redeployment of mandatory presymptomatic screening.
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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.