ReviewInternational journal of neonatal screening2018
Current State of the Art of Newborn Screening for Lysosomal Storage Disorders.
Review in International journal of neonatal screening, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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
16 citing papers in PubMed.
- Artificial Intelligence, Connected Care, and Enabling Digital Health Technologies in Rare Diseases With a Focus on Lysosomal Storage Disorders: Scoping Review.Journal of medical Internet research · 2026Article
- Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.Orphanet journal of rare diseases · 2025Article
- Article
- Functional assessment of IDUA variants of uncertain significance identified by newborn screening.NPJ genomic medicine · 2024Article
- Development of an Infantile GM2 Clinical Rating Scale: Remote Assessment of Clinically Meaningful Health-Related Function.Journal of child neurology · 2024Article
- How mass spectrometry revolutionized newborn screening.Journal of mass spectrometry and advances in the clinical lab · 2024Review
- Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots.JIMD reports · 2024Article
- Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening.Frontiers in pediatrics · 2024Article
- Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.International journal of neonatal screening · 2023Article
- Newborn Screening for Fabry Disease: Current Status of Knowledge.International journal of neonatal screening · 2023Review
- Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study.Neurology. Genetics · 2021Article
- Digital Microfluidics in Newborn Screening for Mucopolysaccharidoses: A Progress Report.International journal of neonatal screening · 2020Review
- Review
- Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges.International journal of neonatal screening · 2020Article
- Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation.International journal of neonatal screening · 2020Article
- Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective.International journal of neonatal screening · 2020Review
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Prospective full-population newborn screening for multiple lysosomal storage disorders (LSDs) is currently practiced in a few NBS programs, and several others are actively pursuing this course of action. Two platforms suitable for multiple LSD screening-tandem mass spectrometry (MS/MS) and digital microfluidic fluorometry (DMF)-are now commercially available with reagent kits. In this article, we review the methods currently used for prospective NBS for LSDs and objectively compare their workflows and the results from two programs in the United States that screen for the same four LSDs, one using MS/MS and the other DMF. The results show that the DMF platform workflow is simpler and generates results faster than MS/MS, enabling results reporting on the same day as specimen analysis. Furthermore, the performance metrics for both platforms while not identical, are broadly similar and do not indicate the superior performance of one method over the other. Results show a preponderance of inconclusive results for Pompe and Fabry diseases and for Hurler syndrome, due to genetic heterogeneity and other factors that can lead to low enzyme activities, regardless of the screening method. We conclude that either platform is a good choice but caution that post-analytical tools will need to be applied to improve the positive predictive value for these conditions.
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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.