Evidence map›Paper›PMID 37373322›Full record

ArticleInternational journal of molecular sciences2023

New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.

Justyna Spiewak, Ivan Doykov, Apostolos Papandreou, Jenny Hällqvist, Philippa Mills, Peter T Clayton, Paul Gissen, Kevin Mills, Wendy E Heywood

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
2.5field-weighted citation impact, top 11% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.

  1. Sphingolipids in Gaucher disease: a systematic review.Orphanet journal of rare diseases · 2025
    Pooled it
  2. Contradictory Effects on Hepatocytes in ASMD.International journal of molecular sciences · 2026
    Review
  3. Article
  4. Review
  5. Review
  6. Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II.International journal of molecular sciences · 2025
    Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Review
  13. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 1 institution in 1 country.

Justyna SpiewakInborn Errors of Metabolism Section, Genetics & Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, University College London, London WC1 1EH, UK.
Ivan DoykovInborn Errors of Metabolism Section, Genetics & Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, University College London, London WC1 1EH, UK.
Apostolos PapandreouInborn Errors of Metabolism Section, Genetics & Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, University College London, London WC1 1EH, UK.
Jenny HällqvistInborn Errors of Metabolism Section, Genetics & Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, University College London, London WC1 1EH, UK.
Philippa MillsInborn Errors of Metabolism Section, Genetics & Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, University College London, London WC1 1EH, UK.
Peter T ClaytonInborn Errors of Metabolism Section, Genetics & Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, University College London, London WC1 1EH, UK.ORCID 0000-0001-7592-4302
Paul GissenInborn Errors of Metabolism Section, Genetics & Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, University College London, London WC1 1EH, UK.ORCID 0000-0002-9712-6122
Kevin MillsInborn Errors of Metabolism Section, Genetics & Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, University College London, London WC1 1EH, UK.ORCID 0000-0003-0763-8288
Wendy E HeywoodInborn Errors of Metabolism Section, Genetics & Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, University College London, London WC1 1EH, UK.
Great Ormond Street Hospital · GB

Funding

Great Ormond Street Biomedical Research Centre unknown
6 · The paper itself

Abstract

Dried blood spots (DBSs) biomarkers are convenient for monitoring for specific lysosomal storage diseases (LSDs), but they could have relevance for other LSDs. To determine the specificity and utility of glycosphingolipidoses biomarkers against other LSDs, we applied a multiplexed lipid liquid chromatography tandem mass spectrometry assay to a DBS cohort of healthy controls (

Indexed as

Fabry DiseaseLysosomal Storage DiseasesBiomarkersGlucosylceramidesHumansProtein IsoformsBiomarkersGlucosylceramidesProtein Isoformsbiomarkerdried blood spotFabry diseaseGaucher diseaseglycosphingolipidmucopolysaccharidosesNiemann–Pick C disease

Identifiers

PMID37373322
PMCPMC10299042
OpenAlexW4380987277

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.