Neonatal Screening for Inherited Metabolic Diseases in 2016

Autor: Villoria, Judit Garcia, Pajares, Sonia, López, Rosa María, Marin, José Luis, Ribes, Antonia

Publikováno v: In Seminars in Pediatric Neurology November 2016 23(4):257-272

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^1,2 (AUTHOR), Arranz, Jose Antonio³ (AUTHOR), Ormazabal, Aida^2,4 (AUTHOR), Del Toro, Mireia³ (AUTHOR), García-Cazorla, Ángeles^2,4 (AUTHOR), Navarro-Sastre, Aleix¹ (AUTHOR), López, Rosa María^1,5 (AUTHOR), Meavilla, Silvia María⁴ (AUTHOR), de los Santos, Mariela Mercedes⁴ (AUTHOR), García-Volpe, Camila⁴ (AUTHOR), de Aledo-Castillo, Jose Manuel González¹ (AUTHOR), Argudo, Ana¹ (AUTHOR), Marín, Jose Luís¹ (AUTHOR), Carnicer, Clara³ (AUTHOR), Artuch, Rafael^2,4 (AUTHOR), Tort, Frederic^1,2,5 (AUTHOR), Gort, Laura^1,2,5 (AUTHOR), Fernández, Rosa⁶ (AUTHOR), García-Villoria, Judit^1,2,5 (AUTHOR), Ribes, Antonia^1,2,5 (AUTHOR) aribes@clinic.cat

Publikováno v: Orphanet Journal of Rare Diseases. 4/30/2021, Vol. 16 Issue 1, p1-12. 12p.

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.

Autor: Pajares, Sonia^1,2 (AUTHOR), Arranz, Jose Antonio³ (AUTHOR), Ormazabal, Aida^2,4 (AUTHOR), Toro, Mireia Del³ (AUTHOR), García-Cazorla, Ángeles^2,4 (AUTHOR), Navarro-Sastre, Aleix¹ (AUTHOR), López, Rosa María^1,5 (AUTHOR), Meavilla, Silvia María⁴ (AUTHOR), de los Santos, Mariela Mercedes⁴ (AUTHOR), García-Volpe, Camila⁴ (AUTHOR), de Aledo-Castillo, Jose Manuel González¹ (AUTHOR), Argudo, Ana¹ (AUTHOR), Marín, Jose Luís¹ (AUTHOR), Carnicer, Clara³ (AUTHOR), Artuch, Rafael^2,4 (AUTHOR), Tort, Frederic^1,2,5 (AUTHOR), Gort, Laura^1,2,5 (AUTHOR), Fernández, Rosa⁶ (AUTHOR), García-Villoria, Judit^1,2,5 (AUTHOR), Ribes, Antonia^1,2,5 (AUTHOR) aribes@clinic.cat

Publikováno v: Orphanet Journal of Rare Diseases. 7/13/2023, Vol. 18 Issue 1, p1-1. 1p.

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