Evidence map›Paper›PMID 40843901›Full record

ArticleInternational journal of neonatal screening2025

Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow.

Mylène Donge, Sandrine Marie, Amandine Pochet, Lionel Marcelis, Geraldine Luis, François Boemer, Clément Prouteau, Samir Mesli, Matthias Cuykx, Thao Nguyen-Khoa and 11 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. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

21 authors.

Mylène DongeDepartment of Pediatric Neurology, Kannerklinik Centre Hospitalier du Luxembourg, L-1210 Luxembourg, Luxembourg.
Sandrine MarieBiochemical Genetics and Newborn Screening Laboratory, Department of Laboratory Medicine, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200 Brussels, Belgium.
Amandine PochetLouvain Centre for Toxicology and Applied Pharmacology, Institut de Recherche Experimentale et Clinique, UCLouvain, B-1200 Brussels, Belgium.
Lionel MarcelisLaboratory of Paediatric Research and Newborn Screening, Université Libre de Bruxelles, B-1020 Brussels, Belgium.
Geraldine LuisBiochemical Genetics and Newborn Screening Laboratory, CHU Liege, B-4000 Liege, Belgium.
François BoemerBiochemical Genetics and Newborn Screening Laboratory, CHU Liege, B-4000 Liege, Belgium.ORCID 0000-0003-4470-9524
Clément ProuteauDepartment of Medical Genetics, Angers University Hospital, F-49000 Angers, France.ORCID 0000-0002-2986-5599
Samir MesliDepartment of Biochemistry, Centre Hospitalier Universitaire de Bordeaux, F-33404 Bordeaux, France.
Matthias CuykxClinical Chemistry and Newborn Screening Center, UZ Antwerpen, B-2650 Antwerpen, Belgium.ORCID 0000-0002-3024-6939
Thao Nguyen-KhoaLaboratoire du Centre Régional de Dépistage Néonatal de l'Ile de France, Hôpital Necker-Enfants Malades, AP-HP Centre Université Paris Cité, 161, rue de Sèvres, F-75015 Paris, France.ORCID 0000-0003-3738-7299
David GuénetLaboratory of Biochemistry, Normandie Université, UNICAEN, CHU of Caen Normandie, F-14000 Caen, France.
Aurélie EmpainNutrition and Metabolic Clinic, Brussels University Hospital, Academic Children Hospital Queen Fabiola, Université Libre de Bruxelles, B-1020 Brussels, Belgium.ORCID 0000-0002-2641-0150
Magalie BarthDepartment of Medical Genetics, Angers University Hospital, F-49000 Angers, France.
Benjamin DauriatMedical Genetics and Cytogenetics Department, Limoges Universitary Hospital, F-87000 Limoges, France.
Cécile Laroche-RaynaudCentre de Compétence des Maladies Héréditaires du Métabolisme, Centre Hospitalier Universitaire de Limoges, F-87000 Limoges, France.
Corinne De LaetNutrition and Metabolic Clinic, Brussels University Hospital, Academic Children Hospital Queen Fabiola, Université Libre de Bruxelles, B-1020 Brussels, Belgium.
Patrick VerlooDepartment of Pediatric Neurology, Center for Inherited Metabolic Disorders, University Hospital Ghent, B-9000 Ghent, Belgium.ORCID 0000-0003-2077-0275
An I JonckheereCentre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, B-2650 Antwerpen, Belgium.
Manuel SchiffReference Center for Inborn Errors of Metabolism, Necker University Hospital, AP-HP Centre Université Paris Cité, Filière G2M, F-75015 Paris, France.ORCID 0000-0001-8272-232X
Marie-Cécile NassogneDepartment of Pediatric Neurology, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200 Brussels, Belgium.ORCID 0000-0001-6936-1611
Joseph P DewulfBiochemical Genetics and Newborn Screening Laboratory, Department of Laboratory Medicine, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200 Brussels, Belgium.ORCID 0000-0001-7223-2706

Funding

Fondation Saint-Luc nonumber
6 · The paper itself

Abstract

Pyridoxine-dependent epilepsy (PDE) represents a group of rare developmental and epileptic encephalopathies. The most common PDE is caused by biallelic pathogenic variants in

Indexed as

2-OPP2S,6S-/2S,6R-oxopropylpiperidine-2-carboxylate6-oxo-pipecolateALDH7A1dried blood spotsFIA-MS/MSnewborn screeningpipecolatepyridoxine-dependent epilepsy

Identifiers

PMID40843901
PMCPMC12372136

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.