ArticleInternational journal of neonatal screening2018
Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools.
Article 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 38 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
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data.Haematologica · 2021Pooled it
- Review
- Caregiver-reported disease burden in Krabbe disease: evaluating outcomes of hematopoietic stem cell transplantation.Orphanet journal of rare diseases · 2026Article
- Article
- Promises and challenges of genomic newborn screening (NBS) - lessons from public health NBS programs.Pediatric research · 2025Review
- UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots.Biomolecules · 2024Article
- Infantile Krabbe disease (0-12 months), progression, and recommended endpoints for clinical trials.Annals of clinical and translational neurology · 2024Article
- A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II.International journal of neonatal screening · 2024Review
- The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges.International journal of neonatal screening · 2024Review
- Newborn Screening for Fabry Disease: Current Status of Knowledge.International journal of neonatal screening · 2023Review
- Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I.International journal of neonatal screening · 2023Article
- Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories.International journal of neonatal screening · 2022Review
- A kaleidoscopic view of extracellular vesicles in lysosomal storage disorders.Extracellular vesicles and circulating nucleic acids · 2022Review
- Krabbe disease: A personal perspective and hypothesis.BioImpacts : BI · 2022Review
- Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry.Frontiers in pediatrics · 2022Article
- Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications.International journal of molecular sciences · 2021Article
- Newborn Screening for Krabbe Disease-Illinois Experience: Role of Psychosine in Diagnosis of the Disease.International journal of neonatal screening · 2021Article
- Epidemiology of Mucopolysaccharidoses Update.Diagnostics (Basel, Switzerland) · 2021Review
- Development of Strategies to Decrease False Positive Results in Newborn Screening.International journal of neonatal screening · 2020Review
- Tandem Mass Spectrometry Enzyme Assays for Multiplex Detection of 10-Mucopolysaccharidoses in Dried Blood Spots and Fibroblasts.Analytical chemistry · 2020Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
All of the worldwide newborn screening (NBS) for lysosomal storage diseases (LSDs) is done by measurement of lysosomal enzymatic activities in dried blood spots (DBS). Substrates used for these assays are discussed. While the positive predictive value (PPV) is the gold standard for evaluating medical tests, current PPVs for NBS of LSDs cannot be used as a performance metric due to statistical sampling errors and uncertainty in the onset of disease symptoms. Instead, we consider the rate of screen positives as the only currently reliable way to compare LSD NBS results across labs worldwide. It has been suggested that the expression of enzymatic activity data as multiple-of-the-mean is a way to normalize datasets obtained using different assay platforms, so that results can be compared, and universal cutoffs can be developed. We show that this is often not the case, and normalization is currently not feasible. We summarize the recent use of pattern matching statistical analysis together with measurement of an expanded group of enzymatic activities and biomarkers to greatly reduce the number of false positives for NBS of LSDs. We provide data to show that these post-enzymatic activity assay methods are more powerful than genotype analysis for the stratification of NBS for LSDs.
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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.