In one paragraphArticle in Biomedicines, 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
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
15 authors.
María Domínguez-RuizServicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.ORCID 0000-0002-7583-0370 Juan Luis ChicoServicio de Neurología, Hospital Universitario Ramón y Cajal, IRYCIS, Universidad de Alcalá de Henares, 28034 Madrid, Spain.ORCID 0000-0001-6557-912X Laura López-MarínSección de Neuropediatría, Hospital Infantil Universitario Niño Jesús, 28009 Madrid, Spain.
Sinziana StanescuServicio de Pediatría, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.ORCID 0000-0003-0340-4580 Pablo CrujeirasCongenital Metabolic Diseases Unit, Department of Neonatology, University Clinical Hospital of Santiago de Compostela, Instituto de Investigación Sanitaria de Santiago (IDIS), European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15706 Santiago de Compostela, Spain.ORCID 0000-0002-1320-6150 Daniel RodriguesCongenital Metabolic Diseases Unit, Department of Neonatology, University Clinical Hospital of Santiago de Compostela, Instituto de Investigación Sanitaria de Santiago (IDIS), European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15706 Santiago de Compostela, Spain.ORCID 0000-0002-2934-1699 María-Elena de Las Heras-AlonsoServicio de Dermatología, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
Rosana TorremochaUnidad de Genómica, Fundación Parque Científico de Madrid, 28049 Madrid, Spain.
María Del Mar Meijón-OrtigueiraServicio de Hematología, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.ORCID 0000-0002-2644-342X Patricia Muñoz-DíezServicio de Hematología, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
Val F LanzaUCA de Genómica Traslacional y Bioinformática (UCA-GTB), Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.ORCID 0000-0003-0870-9500 Cristóbal ColónCongenital Metabolic Diseases Unit, Department of Neonatology, University Clinical Hospital of Santiago de Compostela, Instituto de Investigación Sanitaria de Santiago (IDIS), European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15706 Santiago de Compostela, Spain.ORCID 0000-0002-9711-2812 Jesús VillarrubiaCSUR de Enfermedades Metabólicas, European Reference Network for Hereditary Metabolic Disorders (MetabERN), Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.ORCID 0000-0003-4501-5938 Amaya BelangerServicio de Pediatría, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.ORCID 0000-0003-0102-8956 Francisco J Del CastilloServicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.ORCID 0000-0003-0467-4320 Funding
Sanofi (Spain) LYSOSPAIN
6 · The paper itselfAbstract
PubMed holds no abstract for this paper.
Indexed as
deep intronic variantsfunctional assaysgloboid cell leukodystrophyKrabbe diseaselysosomal diseasesNGSphenotypic variationrare diseases
Identifiers
PMID41463122
PMCPMC12731088
What Socratic holds
Textmetadata
LicenceCC BY
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