Evidence map›Paper›PMID 39728402›Full record

ArticleInternational journal of neonatal screening2024

Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide.

Allysa M Kuypers, Marelle J Bouva, J Gerard Loeber, Anita Boelen, Eugenie Dekkers, Konstantinos Petritis, C Austin Pickens, The Isns Representatives, Francjan J van Spronsen, M Rebecca Heiner-Fokkema

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In one paragraph

Article in International journal of neonatal screening, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Allysa M KuypersSection of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.ORCID 0000-0003-1947-5949
Marelle J BouvaCentre for Health Protection, National Institute for Public Health and the Environment (RIVM), 3720 BA Bilthoven, The Netherlands.ORCID 0000-0002-7699-4887
J Gerard LoeberInternational Society for Neonatal Screening (ISNS) Office, 3721 CK Bilthoven, The Netherlands.
Anita BoelenEndocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.ORCID 0000-0002-4994-2918
Eugenie DekkersCentre for Population Research, National Institute for Public Health and the Environment (RIVM), 3720 BA Bilthoven, The Netherlands.
Konstantinos PetritisNewborn Screening and Molecular Biology Branch, Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.ORCID 0000-0001-8660-8532
C Austin PickensNewborn Screening and Molecular Biology Branch, Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.ORCID 0000-0003-1632-5777
The Isns Representatives
Francjan J van SpronsenSection of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.ORCID 0000-0002-3773-1929
M Rebecca Heiner-FokkemaLaboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, P.O. Box 30 001, 9700 RB Groningen, The Netherlands.ORCID 0000-0002-3477-0770

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In The Netherlands, newborn screening (NBS) for tyrosinemia type 1 (TT1) uses dried blood spot (DBS) succinylacetone (SUAC) as a biomarker. However, high false-positive (FP) rates and a false-negative (FN) case show that the Dutch TT1 NBS protocol is suboptimal. In search of optimization options, we evaluated the protocols used by other NBS programs and their performance. We distributed an online survey to NBS program representatives worldwide (

Indexed as

dried blood spotsinborn metabolic diseaseneonatal screeningsuccinylacetonetyrosinetyrosinemia type 1

Identifiers

PMID39728402
PMCPMC11677071

What OpenQuestion holds

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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.