Profil bibliographique

Sonia Pajares

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

19Publications signalées

313Citations signalées

5Affiliations récentes

Institutions déclarées

Instituto de Salud Carlos III Centre for Biomedical Network Research on Rare Diseases Centro de Investigación Biomédica en Red Hospital Clínic de Barcelona Fundació Clínic per a la Recerca Biomèdica

Domaines associés

Metabolism and Genetic DisordersFolate and B Vitamins ResearchLysosomal Storage Disorders ResearchMitochondrial Function and PathologyMuscle metabolism and nutrition

Publications récentes

Accès ouvert 2026 articleOpenAlex

Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result

José Manuel González de Aledo‐Castillo, Mercedes Casado-Río, Sonia Pajares, Silvia Meavilla Olivas et autres

0 citationsInternational Journal of Neonatal Screening

2025 articleOpenAlex

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo‐Fu Type

Elsa Lucas‐Castro, Francisca Díaz, Silvia Modamio‐Høybjør, Manuel Parrón et autres

0 citationsClinical Genetics

2024 articleOpenAlex

A simple, sensitive and high-throughput assay using UPLC-MS/MS for the quantification of plasma methylmalonic acid to detect and monitor genetic and acquired methylmalonic acidurias

Judit Pérez, Tatiana Collado, Carles Zaragoza, Patricia Alcalá et autres

2 citationsMicrochemical Journal

Accès ouvert 2023 erratumOpenAlex

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

Sonia Pajares, José Antonio Arranz, Aída Ormazábal, Mireia del Toro et autres

0 citationsOrphanet Journal of Rare Diseases

Accès ouvert 2023 articleOpenAlex

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

Trine Tangeraas, Juliana Ribeiro Constante, Paul Hoff Backe, Alfonso Oyarzábal et autres

36 citationsBrain

Accès ouvert 2022 articleOpenAlex

Inter-rater reliability assessment for the new-born screening quality assurance

Judit García‐Villoria, Ana Argudo‐Ramírez, L. Alvarez, A. Sahuquillo et autres

4 citationsBiochemia Medica

Accès ouvert 2021 articleOpenAlex

Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Sonia Pajares, José Antonio Arranz, Aída Ormazábal, Mireia del Toro et autres

30 citationsOrphanet Journal of Rare Diseases

Accès ouvert 2020 articleOpenAlex

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

Sonia Pajares, Rosa María López, Laura Gort, Ana Argudo‐Ramírez et autres

14 citationsMolecular Genetics and Metabolism Reports

2019 articleOpenAlex

Maternal metabolic defects detected through expanded newborn screening in Catalonia

Sonia Pajares, Rolando Martínez López, José Manuel González de Aledo‐Castillo, Javier López Marín et autres

0 citationsClinica Chimica Acta

2019 articleOpenAlex

20 years experience with newborn screening for cystic fibrosis in Catalonia

Ana Argudo‐Ramírez, Rodriguez Maykel López, Sonia Pajares, José Manuel González de Aledo‐Castillo et autres

0 citationsClinica Chimica Acta

2019 book-chapterOpenAlex

Creatine as Biomarker

Sonia Pajares, Ángela Arias, Judit García‐Villoria, Antònia Ribes

0 citationsBiomarkers in disease

2016 articleOpenAlex

Neonatal Screening for Inherited Metabolic Diseases in 2016

Judit García‐Villoria, Sonia Pajares, Rosa María López, José Luis Marı́n et autres

47 citationsSeminars in Pediatric Neurology

Profil ORCID Notice OpenAlex

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