Evidence map›Paper›PMID 41562797›Full record

ArticleInternational journal of neonatal screening2025

Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral.

Nils W F Meijer, Hidde H Huidekoper, Klaas Koop, Sabine A Fuchs, M Rebecca Heiner Fokkema, Charlotte M A Lubout, Andrea B Haijer-Schreuder, Wouter F Visser, Rendelien K Verschoof-Puite, Eugènie Dekkers and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of neonatal screening, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Propionic acidemia in Mexico: Clinical and genotypic spectrum.Molecular genetics and metabolism reports · 2026
    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

13 authors.

Nils W F MeijerDepartment of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.
Hidde H HuidekoperDepartment of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.ORCID 0000-0003-1276-0931
Klaas KoopDepartment of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.ORCID 0000-0003-4027-9723
Sabine A FuchsDepartment of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.
M Rebecca Heiner FokkemaLaboratory of Metabolic Diseases, Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.ORCID 0000-0002-3477-0770
Charlotte M A LuboutSection of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.
Andrea B Haijer-SchreuderSection of Molecular Metabolism and Nutrition, Laboratory of Pediatrics, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands.
Wouter F VisserReference Laboratory for Neonatal Screening, Center for Health Protection, National Institute for Public Health and the Environment (RIVM), 3720 BA Bilthoven, The Netherlands.
Rendelien K Verschoof-PuiteDepartment for Vaccine Supply and Prevention Programmes, RIVM Dutch National Institute for Public Health and the Environment, 3720 BA Bilthoven, The Netherlands.
Eugènie DekkersCentre for Population Screening, National Institute for Public Health and the Environment, RIVM, 3720 BA Bilthoven, The Netherlands.
Annet M BoschAmsterdam Gastroenterology Endocrinology and Metabolism, Division of Metabolic Diseases, Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.ORCID 0000-0001-5027-5916
Rose E MaaseReference Laboratory for Neonatal Screening, Center for Health Protection, National Institute for Public Health and the Environment (RIVM), 3720 BA Bilthoven, The Netherlands.
Monique G M de Sain-van der VeldenDepartment of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.ORCID 0000-0003-3033-4397

Funding

Metakids 2024-104
6 · The paper itself

Abstract

In the Netherlands, the newborn screening (NBS) program includes screening for propionic aciduria (PA) and methylmalonic aciduria (MMA). When initial screening reveals elevated C3 concentrations or abnormal ratios (C3/C2, C3/C16), a second-tier test measuring methylcitric acid (MCA) for PA and methylmalonic acid (MMA

Indexed as

European NBS programsexpedited referralfirst-tiernewborn screeningpropionic aciduria

Identifiers

PMID41562797
PMCPMC12821464

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.