ArticleOrphanet journal of rare diseases2021
Implementation of second-tier tests in newborn screening for the detection of vitamin B
Erratum issuedOpen access · goldAbstract read
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Article in Orphanet journal of rare diseases, 2021. 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 19 papers.
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19citing papers in PubMed
3.7field-weighted citation impact, top 6% of its field
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Who cites it
19 citing papers in PubMed, 29 citations in OpenAlex.
- Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result.International journal of neonatal screening · 2026Article
- Pilot Newborn Screening for Vitamin B12 Deficiency in the Czech Republic: Results and Detailed Studies on Identified Babies and Their Mothers.International journal of neonatal screening · 2026Article
- Metabolic toxicity and neurological dysfunction in methylmalonic acidemia: from mechanisms to therapeutics.Molecular medicine (Cambridge, Mass.) · 2025Review
- Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis.Frontiers in pediatrics · 2025Review
- Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening.Journal of inherited metabolic disease · 2025Article
- The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear.International journal of neonatal screening · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.PeerJ · 2024Article
- Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.Nutrients · 2023Article
- Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.Orphanet journal of rare diseases · 2023Article
- Moroccan Experience of Targeted Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry.Pediatric reports · 2023Article
- Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway.International journal of neonatal screening · 2023Article
- A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age.International journal of neonatal screening · 2022Article
- Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency.Acta paediatrica (Oslo, Norway : 1992) · 2022Article
- Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection.Nutrients · 2022Article
- Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.International journal of neonatal screening · 2022Article
- Incorporation of second-tier tests and secondary biomarkers to improve positive predictive value (PPV) rate in newborn metabolic screening program.Journal of clinical laboratory analysis · 2022Article
- Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations.International journal of neonatal screening · 2022Article
- Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population.Frontiers in genetics · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
20 authors at 5 institutions in 1 country.
Sonia PajaresSección de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica Y Genética Molecular, Hospital Clínic de Barcelona, C/ Mejía Lequerica S/N, Edificio Helios III, 08028, Barcelona, Spain.
Jose Antonio ArranzUnit of Metabolic Diseases, Hospital Vall D'Hebrón, Barcelona, Spain.
Aida OrmazabalCenter for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain.
Mireia Del ToroUnit of Metabolic Diseases, Hospital Vall D'Hebrón, Barcelona, Spain.
Ángeles García-CazorlaCenter for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain.
Aleix Navarro-SastreSección de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica Y Genética Molecular, Hospital Clínic de Barcelona, C/ Mejía Lequerica S/N, Edificio Helios III, 08028, Barcelona, Spain.
Rosa María LópezSección de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica Y Genética Molecular, Hospital Clínic de Barcelona, C/ Mejía Lequerica S/N, Edificio Helios III, 08028, Barcelona, Spain.
Silvia María MeavillaInborn Errors of Metabolism Unit, Hospital Sant Joan de Déu, Barcelona, Spain.
Mariela Mercedes de Los SantosInborn Errors of Metabolism Unit, Hospital Sant Joan de Déu, Barcelona, Spain.
Camila García-VolpeInborn Errors of Metabolism Unit, Hospital Sant Joan de Déu, Barcelona, Spain.
Jose Manuel González de Aledo-CastilloSección de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica Y Genética Molecular, Hospital Clínic de Barcelona, C/ Mejía Lequerica S/N, Edificio Helios III, 08028, Barcelona, Spain.
Ana ArgudoSección de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica Y Genética Molecular, Hospital Clínic de Barcelona, C/ Mejía Lequerica S/N, Edificio Helios III, 08028, Barcelona, Spain.
Jose Luís MarínSección de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica Y Genética Molecular, Hospital Clínic de Barcelona, C/ Mejía Lequerica S/N, Edificio Helios III, 08028, Barcelona, Spain.
Clara CarnicerUnit of Metabolic Diseases, Hospital Vall D'Hebrón, Barcelona, Spain.
Rafael ArtuchCenter for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain.
Frederic TortSección de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica Y Genética Molecular, Hospital Clínic de Barcelona, C/ Mejía Lequerica S/N, Edificio Helios III, 08028, Barcelona, Spain.
Laura GortSección de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica Y Genética Molecular, Hospital Clínic de Barcelona, C/ Mejía Lequerica S/N, Edificio Helios III, 08028, Barcelona, Spain.
Rosa FernándezMaternal and Child Health Service, Public Health Agency of Catalonia, Health Department, Government of Catalonia, Barcelona, Spain.
Judit García-Villoria *Sección de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica Y Genética Molecular, Hospital Clínic de Barcelona, C/ Mejía Lequerica S/N, Edificio Helios III, 08028, Barcelona, Spain.
Antonia Ribes *Sección de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica Y Genética Molecular, Hospital Clínic de Barcelona, C/ Mejía Lequerica S/N, Edificio Helios III, 08028, Barcelona, Spain. aribes@clinic.cat.ORCID http://orcid.org/0000-0002-2249-246X
Hospital Sant Joan de Déu Barcelona · ESCentre for Biomedical Network Research on Rare Diseases · ESHospital Clínic de Barcelona · ESVall d'Hebron Hospital Universitari · ESGeneralitat de Catalunya · ES
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlteration of vitamin B
methodsA screening strategy using the usual primary markers followed by the analysis of MMA, MCA and Hcys as second tier-test in the first dried blood spot (DBS) was developed and evaluated.
resultsDuring the period 2015-2018 a total of 258,637 newborns were screened resulting in 130 newborns with acquired vitamin B
conclusionsWhen screening for methylmalonic acidemia and homocystinuria, differential diagnosis with acquired vitamin B
Indexed as
Propionic AcidemiaVitamin B 12 DeficiencyHomocysteineHumansInfant, NewbornMethylmalonic AcidNeonatal ScreeningVitamin B 12VitaminsHomocysteineMethylmalonic AcidVitamin B 12VitaminsHomocysteineHomocystinuriaMethylcitric acidMethylmalonic acidMethylmalonic acidemiaNewborn screeningPropionic acidemiaSecond-tier testVitamin B12 deficiency
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LicenceCC BY
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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.