Additional file 2 of Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Autor: Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Toro, Mireia Del, García-Cazorla, Ángeles, Aleix Navarro-Sastre, López, Rosa María, Meavilla, Silvia María, De Los Santos, Mariela Mercedes, García-Volpe, Camila, De Aledo-Castillo, Jose Manuel González, Argudo, Ana, Marín, Jose Luís, Carnicer, Clara, Artuch, Rafael, Tort, Frederic, Gort, Laura, Fernández, Rosa, García-Villoria, Judit, Ribes, Antonia

Additional file 2. Validation results of methylmalonic acid, methylcitric acid and homocysteine on dried blood spots by UPLC-MS/MS.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::107996ea5dda8908c1a3091a734ebd9c

Additional file 1 of Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Autor: Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Toro, Mireia Del, García-Cazorla, Ángeles, Aleix Navarro-Sastre, López, Rosa María, Meavilla, Silvia María, De Los Santos, Mariela Mercedes, García-Volpe, Camila, De Aledo-Castillo, Jose Manuel González, Argudo, Ana, Marín, Jose Luís, Carnicer, Clara, Artuch, Rafael, Tort, Frederic, Gort, Laura, Fernández, Rosa, García-Villoria, Judit, Ribes, Antonia

Additional file 1. Additional material and methods.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1deaadda02d6323b5fca5506703805d1

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

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Publikováno v: The Journal of Molecular Diagnostics; May 2022, Vol. 24 Issue: 5 p529-542, 14p

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Autor: Martínez de Compañón, Zuriñe, Poblet-Puig, Miriam, Vallès, Griselda, Toro, Mireia Del, Vilalta, Ramón, Moreno, Antonio, Balcells, Joan

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