Macrophage Activation Syndrome as a Complication of Chronic Granulomatous Disease: A Case Report von Liquidano-Perez, Eduardo, Carmona Berrón, Mariana, Carrillo Nieto, Rosa Itzel, Corcuera Delgado, Celso Tomás, Blancas Galicia, Lizbeth, Scheffler Mendoza, Selma Cecilia

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Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect von Fernández-Lainez, Cynthia, Vela-Amieva, Marcela, Reyna-Fabián, Miriam, Fernández-Hernández, Liliana, Guillén-López, Sara, López-Mejía, Lizbeth, Alcántara-Ortigoza, Miguel Ángel, González-del Angel, Ariadna, Carrillo-Nieto, Rosa Itzel, Ortega-Valdez, Enrique, Rojas-Maruri, Mauricio, Ridaura-Sanz, Cecilia

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A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism von Ibarra-González, Isabel, Fernández-Lainez, Cynthia, Vela-Amieva, Marcela, Guillén-López, Sara, Belmont-Martínez, Leticia, López-Mejía, Lizbeth, Carrillo-Nieto, Rosa Itzel, Guillén-Zaragoza, Nidia Alejandra

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Importance of Studying Older Siblings of Patients Identified by Newborn Screening: a Single-Center Experience in Mexico von Ibarra-González, Isabel, Fernández-Lainez, Cynthia, Guillén-López, Sara, López-Mejía, Lizbeth, Belmont-Martínez, Leticia, Nieto-Carrillo, Rosa Itzel, Vela-Amieva, Marcela

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Atención de pacientes con errores innatos del metabolismo durante la pandemia de COVID-19 en México: importancia de la telemedicina von Guillén López, Sara, López Mejía, Lizbeth, Carrillo Nieto, Rosa Itzel, Ibarra González, Isabel, Belmont Martínez, Leticia, Vela Amieva, Marcela

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Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management von Vela-Amieva, Marcela, Alcántara-Ortigoza, Miguel Angel, González-Del Angel, Ariadna, Fernández-Hernández, Liliana, Reyna-Fabián, Miriam Erandi, Estandía-Ortega, Bernardette, Guillén-López, Sara, López-Mejía, Lizbeth, Belmont-Martínez, Leticia, Carrillo-Nieto, Rosa Itzel, Ibarra-González, Isabel, Ryu, Seung-Woo, Lee, Hane, Fernández-Lainez, Cynthia

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An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations von Vela-Amieva, Marcela, Alcántara-Ortigoza, Miguel Angel, Ibarra-González, Isabel, González-Del Angel, Ariadna, Fernández-Hernández, Liliana, Guillén-López, Sara, López-Mejía, Lizbeth, Carrillo-Nieto, Rosa Itzel, Belmont-Martínez, Leticia, Fernández-Lainez, Cynthia

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Seguimiento bioquímico y dosis de medicamentos de EIM del metabolismo intermedio von Guillén López, Sara, López-Mejía, Lizbeth, Carrillo-Nieto, Rosa Itzel, Belmont Martínez, Leticia, Ibarra González, Isabel, Fernández-Lainez, Cynthia, Vela-Amieva, Marcela

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Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report von Meza-Espinoza, Juan Pablo, González-García, Juan Ramón, Nieto-Marín, Nayeli, Patrón-Baro, Liliana Itzel, González-Arreola, Rosa María, Arámbula-Meraz, Eliakym, Benítez-Pascual, Julio, De la Herrán-Arita, Alberto Kousuke, Norzagaray-Valenzuela, Claudia Desireé, Valdez-Flores, Marco Antonio, Carrillo-Cázares, Tomás Adrián, Picos-Cárdenas, Verónica Judith

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