ArticleClinica chimica acta; international journal of clinical chemistry2012
Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders.
Article in Clinica chimica acta; international journal of clinical chemistry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses 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
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 48 citations in OpenAlex.
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns.Expert review of molecular diagnostics · 2018Pooled it
- Delayed Diagnosis of Type 1 Gaucher Disease at Age 15 After Years of Mild Cytopenias and Splenomegaly: A Case Report and Long-Term Follow-Up.The American journal of case reports · 2026Article
- 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
- The Lysosomal Diseases Testing Laboratory: A review of the past 47 years.JIMD reports · 2020Article
- A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.International journal of neonatal screening · 2020Article
- Fluorimetric assay with a novel substrate for quantification of galactocerebrosidase activity in dried blood spot specimens.Practical laboratory medicine · 2020Article
- The Second Case of Saposin A Deficiency and Altered Autophagy.JIMD reports · 2019Article
- Quantification of 11 enzyme activities of lysosomal storage disorders using liquid chromatography-tandem mass spectrometry.Molecular genetics and metabolism reports · 2018Article
- Newborn screening in mucopolysaccharidoses.Italian journal of pediatrics · 2018Review
- Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry.Molecular genetics and metabolism reports · 2016Article
- Newborn screening for Krabbe's disease.Journal of neuroscience research · 2016Review
- Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.Molecular genetics and metabolism · 2016Article
- Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate.Molecular genetics and metabolism reports · 2015Article
- Pompe disease: literature review and case series.Neurologic clinics · 2014Review
- Improved reagents for newborn screening of mucopolysaccharidosis types I, II, and VI by tandem mass spectrometry.Analytical chemistry · 2014Article
- Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry.Clinics (Sao Paulo, Brazil) · 2013Article
- Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.Clinica chimica acta; international journal of clinical chemistry · 2013Article
- Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.The Journal of pediatrics · 2013Article
- Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases.North American journal of medicine & scienceArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundWe sought to modify a previously published tandem mass spectrometry method of screening for 5 lysosomal storage disorders (LSDs) in order to make it better suited for high-throughput newborn screening.
methodsTwo 3-mm dried blood spot (DBS) punches were incubated, each with a different assay solution. The quadruplex solution was used for screening for Gaucher, Pompe, Krabbe and Fabry diseases, while a separate solution was used for Niemann-Pick A/B disease.
resultsThe mean activities of acid-β-glucocerebrosidase (ABG), acid sphingomyelinase (ASM), acid glucosidase (GAA), galactocerebroside-β-galactosidase (GALC) and acid-galactosidase A (GLA) were measured on 5055 unidentified newborns. The mean activities (compared with their disease controls) were, 15.1 (0.35), 22.2 (1.34), 16.8 (0.51), 3.61 (0.23), and 20.7 (1.43) (μmol/L/h), respectively. The number of specimens that fell below our retest level cutoff of <20% daily mean activity (DMA) for each analyte is: ABG (6), ASM (0), GAA (5), GALC (17), and GLA (2).
conclusionsThis method provides a simplified and reliable assay for screening for five LSDs with clear distinction between activities from normal and disease samples. Advantages of this new method include significant decreases in processing time and the number of required assay solutions and overall decreased complexity.
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.