In one paragraphArticle in International journal of neonatal screening, 2026. 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
16 authors.
José Manuel González de Aledo-CastilloDivision of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, CDB, Hospital Clínic de Barcelona, 08036 Barcelona, Spain.ORCID 0000-0002-7622-417X Mercedes Casado-RíoDepartment of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, 08950 Esplugues de Llobrega, Spain.
Sonia PajaresDivision of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, CDB, Hospital Clínic de Barcelona, 08036 Barcelona, Spain.
Silvia Meavilla OlivasPediatrics, Gastroenterology, Hepatology and Nutrition, Sant Joan de Déu Hospital, 08950 Esplugues de Llobregat, Spain.
Laura GortDivision of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, CDB, Hospital Clínic de Barcelona, 08036 Barcelona, Spain.ORCID 0000-0003-4746-1034 Laura Martí SánchezDepartment of Genetics and Molecular Medicine, Sant Joan de Déu Hospital, 08950 Esplugues de Llobregat, Spain.
Abraham J Paredes-FuentesDivision of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, CDB, Hospital Clínic de Barcelona, 08036 Barcelona, Spain.ORCID 0000-0002-7163-2385 Leticia Pias-PeleteiroNeurometabolic Unit, Department of Child Neurology, Sant Joan de Déu Hospital, 08950 Esplugues de Llobregat, Spain.ORCID 0000-0002-1608-841X Marta Gomez-ChiariDiagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, 08950 Esplugues de Llobrega, Spain.ORCID 0000-0001-6726-1721 Montserrat Quintana VidaurriClinical Genetics Department, Sant Joan de Déu Hospital, 08950 Esplugues de Llobrega, Spain.
Rosa María López-GaleraDivision of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, CDB, Hospital Clínic de Barcelona, 08036 Barcelona, Spain.
Ana Argudo-RamírezDivision of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, CDB, Hospital Clínic de Barcelona, 08036 Barcelona, Spain.ORCID 0000-0001-6069-7370 Jaime Sainz de MedranoDivision of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, CDB, Hospital Clínic de Barcelona, 08036 Barcelona, Spain.ORCID 0000-0003-2540-2578 Rafael Artuch IriberriDepartment of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, 08950 Esplugues de Llobrega, Spain.ORCID 0000-0002-3422-9685 Judit García-VilloriaDivision of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, CDB, Hospital Clínic de Barcelona, 08036 Barcelona, Spain.ORCID 0000-0003-2132-4138 Aída Ormazábal HerreroDepartment of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, 08950 Esplugues de Llobrega, Spain.
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
Classical homocystinuria (HCY) due to cystathionine beta-synthase (CBS) deficiency is included in many newborn screening programs, which traditionally use dried blood spot (DBS) methionine as the primary biomarker. However, some patients have normal or only mildly elevated methionine in the neonatal period, leading to false-negative results. We report a four-month-old male infant referred for sagittal craniosynostosis, whose metabolic evaluation revealed markedly elevated plasma methionine and total homocysteine concentrations. Genetic analysis identified a homozygous, pathogenic variant (c.1007G>A) in the
Indexed as
classical homocystinuriacystathionine beta-synthase (CBS) deficiencyfalse-negative resultmethioninenewborn screeningpyridoxine responsivenesstotal homocysteine
Identifiers
PMID42782617
PMCPMC13607250
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