Importance of genetic sequencing studies in managing chronic neonatal diarrhea: a case report of a novel variant in the glucose-galactose transporter SLC5A1 von López-Mejía, Lizbeth, Guillén-Lopez, Sara, Vela-Amieva, Marcela, Santillán-Martínez, Rosalía, Abreu, Melania, González-Herrra, María Dolores, Díaz-Martínez, Rubicel, Reyes-Magaña, Juan Gaspar

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Hypogammaglobulinemia Class G Is Present in Compensated and Decompensated Patients with Propionate Defects, Independent of Their Nutritional Status von López-Mejía, Lizbeth Alejandra, Vela-Amieva, Marcela, Guillén-López, Sara, Mancera-Hernández, Daniela, Ibarra-González, Isabel, Medina-Torres, Edgar Alejandro, Espinosa-Padilla, Sara Elva, Fernández-Lainez, Cynthia

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The BMI Z-Score and Protein Energy Ratio in Early- and Late-Diagnosed PKU Patients from a Single Reference Center in Mexico von López-Mejía, Lizbeth Alejandra, Fernández-Lainez, Cynthia, Vela-Amieva, Marcela, Ibarra-González, Isabel, Guillén-López, Sara

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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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In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Scr... von Vela-Amieva, Marcela, Alcántara-Ortigoza, Miguel Angel, González-Del Angel, Ariadna, Ibarra-González, Isabel, Fernández-Hernández, Liliana, Guillén-López, Sara, López-Mejía, Lizbeth, Fernández-Lainez, Cynthia

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Kernicterus in a boy with ornithine transcarbamylase deficiency: A case report von López‐Corella, Eduardo, Ibarra‐González, Isabel, Fernández‐Lainez, Cynthia, Rodríguez‐Weber, Miguel Á., Guillén‐Lopez, Sara, Belmont‐Martínez, Leticia, Agüero‐Linares, David, Vela‐Amieva, Marcela

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Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico von Fernández-Lainez, Cynthia, Ibarra-González, Isabel, Alcántara-Ortigoza, Miguel Ángel, Fernández-Hernández, Liliana, Enríquez-Flores, Sergio, González-del Ángel, Ariadna, Blau, Nenad, Thöny, Beat, Guillén-López, Sara, Belmont-Martínez, Leticia, Ruiz-García, Matilde, Vela-Amieva, Marcela

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Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant von Ibarra‐González, Isabel, Fernández‐Lainez, Cynthia, Alcántara‐Ortigoza, Miguel Angel, González‐Del Angel, Ariadna, Fernández‐Henández, Liliana, Guillén‐López, Sara, Belmont‐Martínez, Leticia, López‐Mejía, Lizbeth, Varela‐Fascinetto, Gustavo, Vela‐Amieva, Marcela

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Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico von Fernández-Lainez, Cynthia, Ibarra-González, Isabel, Belmont-Martínez, Leticia, Monroy-Santoyo, Susana, Guillén-López, Sara, Vela-Amieva, Marcela

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COMPARISON OF FREE CARNITINE LEVELS WITH NUTRITIONAL STATUS IN INFANTILE NEPHROPATHYC CISTINOSIS PATIENTS von Guillén-López, Sara, Ibarra-González, Isabel, Belmont Martínez, Leticia, Juárez-Cruz, Merit Valeria, 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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Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia von Ibarra-González, Isabel, Fernández-Lainez, Cynthia, Guillén-López, Sara, López-Mejía, Lizbeth, Belmont-Matínez, Leticia, Sokolsky, Tanya D., Amin, Viren R., Kitchener, Rebecca L., Vela-Amieva, Marcela, Naylor, Edwin W., Bhattacharjee, Arindam

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Conventional Phenylketonuria Treatment von Sara, Guillén-López, Alejandra, López-Mejía Lizbeth, Isabel, Ibarra-González, Marcela, Vela-Amieva

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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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In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing von Fernández-Lainez, Cynthia, Aláez-Verson, Carmen, Ibarra-González, Isabel, Enríquez-Flores, Sergio, Carrillo-Sanchez, Karol, Flores-Lagunes, Leonardo, Guillén-López, Sara, Belmont-Martínez, Leticia, Vela-Amieva, Marcela

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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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Fórmulas metabólicas disponibles en México para pacientes con fenilcetonuria von López-Mejía, Lizbeth, Guillén-López, Sara, Vela-Amieva, Marcela

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Actualización sobre la lactancia materna en los recién nacidos con errores innatos del metabolismo intermediario von López-Mejía, Lizbeth, Guillén-López, Sara, Vela-Amieva, Marcela, Carrillo-Nieto, Rosa I.

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GASTROSTOMY POSITIVELY AFFECTS NUTRITIONAL STATUS AND DIMINISHES HOSPITAL DAYS IN PATIENTS WITH INBORN ERRORS OF METABOLISM von Guillén-López, Sara, Vela-Amieva, Marcela, Juárez-Cruz, Merit Valeria, González-Zamora, José Francisco, Monroy-Santoyo, Susana, Belmont-Martínez, Leticia

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