ArticleInternational journal of neonatal screening2020
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Article in International journal of neonatal screening, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- Newborn Screening in Fabry Disease.International journal of molecular sciences · 2025Review
- Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon.Molecular genetics and metabolism reports · 2025Article
- Contemporary Multimodality Imaging for Diagnosis and Management of Fabry Cardiomyopathy.Journal of clinical medicine · 2024Review
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses.Orphanet journal of rare diseases · 2024Review
- Newborn Screening for Fabry Disease: Current Status of Knowledge.International journal of neonatal screening · 2023Review
- Detection of disease-causing CFTR variants in state newborn screening programs.Pediatric pulmonology · 2023Article
- Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories.International journal of neonatal screening · 2022Review
- Utilizing augmented artificial intelligence for aminoacidopathies using collaborative laboratory integrated reporting- A cross-sectional study.Annals of medicine and surgery (2012) · 2022Article
- Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.Orphanet journal of rare diseases · 2021Article
- Current and emerging pharmacotherapy for Gaucher disease in pediatric populations.Expert opinion on pharmacotherapy · 2021Article
- Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.Biomolecules · 2021Article
- Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.Molecular genetics and metabolism · 2021Review
- Novel Management and Screening Approaches for Haematological Complications of Gaucher's Disease.Journal of blood medicine · 2021Review
- Digital Microfluidics in Newborn Screening for Mucopolysaccharidoses: A Progress Report.International journal of neonatal screening · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 4 institutions in 2 countries.
Funding
Abstract
Newborn screening for one or more lysosomal disorders has been implemented in several US states, Japan and Taiwan by multiplexed enzyme assays using either tandem mass spectrometry or digital microfluidics. Another multiplex assay making use of immunocapture technology has also been proposed. To investigate the potential variability in performance of these analytical approaches, we implemented three high-throughput screening assays for the simultaneous screening for four lysosomal disorders: Fabry disease, Gaucher disease, mucopolysaccharidosis type I, and Pompe disease. These assays were tested in a prospective comparative effectiveness study using nearly 100,000 residual newborn dried blood spot specimens. In addition, 2nd tier enzyme assays and confirmatory molecular genetic testing were employed. Post-analytical interpretive tools were created using the software Collaborative Laboratory Integrated Reports (CLIR) to determine its ability to improve the performance of each assay vs. the traditional result interpretation based on analyte-specific reference ranges and cutoffs. This study showed that all three platforms have high sensitivity, and the application of CLIR tools markedly improves the performance of each platform while reducing the need for 2nd tier testing by 66% to 95%. Moreover, the addition of disease-specific biochemical 2nd tier tests ensures the lowest false positive rates and the highest positive predictive values for any platform.
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.