Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening von Vela-Amieva, Marcela, Alcántara-Ortigoza, Miguel Angel, González-Del Angel, Ariadna, Belmont-Martínez, Leticia, López-Candiani, Carlos, Ibarra-González, Isabel

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

Functional characterization of the p.(Gln195His) or Tainan and novel p.(Ser184Cys) or Toluca glucose-6-phosphate dehydrogenase (G6PD) gene natural variants identified through Mexic... von Alcántara-Ortigoza, Miguel A., Hernández-Ochoa, Beatriz, González-del Angel, Ariadna, Ibarra-González, Isabel, Belmont-Martínez, Leticia, Gómez-Manzo, Saúl, Vela-Amieva, Marcela

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

Diagnosis, treatment, and follow-up of patients with hypophosphatasia von Cárdenas-Aguilera, Juan Guillermo, González-López, Vladimir, Zarante-Bahamón, Ana María, Prieto-Rivera, Juan Carlos, Baquero-Rodríguez, Richard, Chacón-Acevedo, Kelly Rocío, Meza-Martínez, Adriana Isabel, Serrano-Gayubo, Ana Katherina, Medina-Orjuela, Adriana, Cáceres-Mosquera, Jimena Adriana, Guerrero-Tinoco, Gustavo Adolfo, García-Rueda, María Fernanda, Guarnizo-Zuccardi, Pilar, Herrera-Ortiz, Gilberto, Rojas-Barrera, Carolina, Carrascal-Guzmán, Martha Isabel, Reina-Ávila, María Fernanda, Arguinzoniz-Valenzuela, Sletza Lissette, Belmont-Martínez, Leticia, Del-Pino, Mariana, Viterbo, Gisela Lorena, Seijo, Mariana, Calzada-Hernández, Joan, Guerra-Hernández, Norma Elizabeth, Brunetto, Oscar Héctor

Volltext

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

Volltext

Epidemiología de la fenilcetonuria obtenida mediante tamiz neonatal von Vela Amieva, Marcela, Ibarra González, Isabel, Herrera Pérez, Luz del Alba, Caamal-Parra, Guillermo, Belmont Martínez, Leticia, García Flores, Erika Paola

Volltext

CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis von Alcántara-Ortigoza, Miguel A., Martínez-Bernal, Astrid B., Belmont-Martínez, Leticia, Vela-Amieva, Marcela, Angel, Ariadna González-del

Volltext

Inborn Errors of Intermediary Metabolism in Critically Ill Mexican Newborns von Isabel, Ibarra-González, Cynthia, Fernández-Lainez, Diana, Reyes-González, Leticia, Belmont-Martínez, Sara, Guillén-López, Susana, Monroy-Santoyo, Marcela, Vela-Amieva

Volltext

Crisis neuropática por suspensión de nitisinona en una paciente con tirosinemia: informe de un caso von Ibarra-González, Isabel, Belmont-Martínez, Leticia, Cervantes-Bustamante, Roberto, Zárate-Mondragón, Flora, Guillén-López, Sara, Fernández-Lainez, Cynthia, Revilla-Estivil, Nuria, Vela-Amieva, Marcela

Volltext

Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference von Langman, Craig B., Barshop, Bruce A., Deschênes, Georges, Emma, Francesco, Goodyer, Paul, Lipkin, Graham, Midgley, Julian P., Ottolenghi, Chris, Servais, Aude, Soliman, Neveen A., Thoene, Jess G., Levtchenko, Elena N., Amon, Oliver, Ariceta, Gema, Basurto, Maryan, Belmont-Martínez, Leticia, Bertholet-Thomas, Aurélia, Bos, Marjolein, Brown, Thomas, Cherqui, Stephanie, Cornelissen, Elisabeth A.M., Del Monte, Monte, Ding, Jie, Dohil, Ranjan, Doyle, Maya, Elenberg, Ewa, Gahl, William A., Gomez, Victor, Greco, Marcella, Greeley, Christy, Greenbaum, Larry A., Grimm, Paul, Hohenfellner, Katharina, Holm, Teresa, Hotz, Valerie, Janssen, Mirian C., Kaskel, Frederick, Magriço, Rita, Nesterova, Galina, Newsholme, Philip, Niaudet, Patrick, Rioux, Patrice, Sarwal, Minnie M., Schneider, Jerry, Topaloglu, Rezan, Trauner, Doris A., Vaisbich, Maria Helena, van den Heuvel, Lambertus P., Van't Hoff, William

Volltext