ArticleInternational journal of neonatal screening2020
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
Open access · goldAbstract read
In one paragraph
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 24 papers.
0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
3.9field-weighted citation impact, top 6% of its field
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
24 citing papers in PubMed, 43 citations in OpenAlex.
- Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis.International journal of neonatal screening · 2026Article
- ReclassifyingInternational journal of neonatal screening · 2025Article
- Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.American journal of medical genetics. Part A · 2025Article
- High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis.Molecular genetics and metabolism · 2025Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results.Molecular genetics and metabolism · 2023Review
- First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing.Genetics in medicine open · 2023Article
- Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories.International journal of neonatal screening · 2022Review
- 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
- A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.Molecular genetics and metabolism · 2022Article
- Prevalence of lysosomal storage disorders in Australia from 2009 to 2020.The Lancet regional health. Western Pacific · 2022Article
- Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II.International journal of neonatal screening · 2022Article
- The Editor's Choice for Issue 3, Volume 7.International journal of neonatal screening · 2021Article
- The future of newborn screening for lysosomal disorders.Neuroscience letters · 2021Article
- Use of Molecular Genetic Analyses in Danish Routine Newborn Screening.International journal of neonatal screening · 2021Article
- Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience.International journal of neonatal screening · 2020Article
- Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives.International journal of neonatal screening · 2020Review
- A Biochemical Platform to Define the Relative Specific Activity ofInternational journal of neonatal screening · 2020Article
- Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI.International journal of neonatal screening · 2020Article
- Tandem Mass Spectrometry Enzyme Assays for Multiplex Detection of 10-Mucopolysaccharidoses in Dried Blood Spots and Fibroblasts.Analytical chemistry · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 8 institutions in 1 country.
Dawn S PeckBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).
Jean M LaceyBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).
Amy L WhiteBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).ORCID 0000-0001-8226-615X
Gisele PinoBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).
April L StudinskiBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).
Rachel FisherDivision of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA; firachel@med.umich.edu (R.F.); ayeshaah@med.umich.edu (A.A.).
Ayesha AhmadDivision of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA; firachel@med.umich.edu (R.F.); ayeshaah@med.umich.edu (A.A.).
Linda SpencerDivision of Genetic, Genomic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI 48201, USA; lspencer@dmc.org.
Sarah ViallRare Disease Institute, Children's National Health System, Washington, DC 20010, USA; sviall@childrensnational.org.
Natalie ShallowDivision of Medical Genetics and Genomic Medicine, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN 37232, USA; natalie.shallow@vumc.org.
Amy SiemonDivision of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA; amy.siemon@nationwidechildrens.org.
J Austin HammPediatric Genetics, East Tennessee Children's Hospital, Knoxville, TN 37916, USA; jahamm@etch.com.
Brianna K MurrayDivision of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA 23507, USA; brianna.murray@chkd.org (B.K.M.); kelly.jones@chkd.org (K.L.J.).
Kelly L JonesDivision of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA 23507, USA; brianna.murray@chkd.org (B.K.M.); kelly.jones@chkd.org (K.L.J.).ORCID 0000-0002-5097-9865
Dimitar GavrilovBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).
Devin OglesbeeBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).ORCID 0000-0002-7147-5527
Kimiyo RaymondBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).
Dietrich MaternBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).
Piero RinaldoBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).
Silvia TortorelliBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).
Mayo Clinic · USChildren's Hospital of The King's Daughters · USUniversity of Michigan · USChildren's Hospital of Michigan · USChildren's National · USEast Tennessee Children's Hospital · USMonroe Carell Jr. Children's Hospital · USNationwide Children's Hospital · US
Funding
No grant is acknowledged in the PubMed record.
Abstract
Enzyme-based newborn screening for Mucopolysaccharidosis type I (MPS I) has a high false-positive rate due to the prevalence of pseudodeficiency alleles, often resulting in unnecessary and costly follow up. The glycosaminoglycans (GAGs), dermatan sulfate (DS) and heparan sulfate (HS) are both substrates for α-l-iduronidase (IDUA). These GAGs are elevated in patients with MPS I and have been shown to be promising biomarkers for both primary and second-tier testing. Since February 2016, we have measured DS and HS in 1213 specimens submitted on infants at risk for MPS I based on newborn screening. Molecular correlation was available for 157 of the tested cases. Samples from infants with MPS I confirmed by
Indexed as
biomarkersGAGsMPS Inewborn screeningpostanalytical interpretationsecond-tier testing
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
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.