Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Magdalena Ceron-Rodriguez"'
Autor:
Karla Cifuentes-Uribe, Alejandra Reyes-De La Rosa, Rodrigo Moreno-Salgado, America Villasenor-Dominguez, Magdalena Ceron-Rodriguez, Romina Viveros-Rodriguez, Vianney Cortes-Gonzalez, Gilda Garza-Mayén
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101312- (2024)
Externí odkaz:
https://doaj.org/article/f218e05bdcd5431aa0c8f53d7cd2dd5e
Autor:
Magdalena Cerón‐Rodríguez, Daniela Castillo‐García, Carlos‐Patricio Acosta‐Rodríguez‐Bueno, Jesús Aguirre‐Hernández, Juan‐Rafael Murillo‐Eliosa, Pedro Valencia‐Mayoral, Argelia Escobar‐Sánchez, Juan‐Luis Salgado‐Loza
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract Pompe disease (PD) is an autosomal recessive disorder by a deficiency of acid α‐glucosidase (GAA) with intralysosomal glycogen accumulation in multiple tissues. We present the case of a 5‐month‐old male with hypertrophic cardiomyopath
Externí odkaz:
https://doaj.org/article/1d4d719b65a24738b6cb1df1be263651
Autor:
Diana A. Guerrero-Reséndiz, María T. Gómez Chavarría, Víctor Olivar-López, Magdalena Cerón-Rodríguez, Mónica Villa-Guillén, Horacio Márquez-González
Publikováno v:
Boletín Médico del Hospital Infantil de México, Vol 79, Iss 2 (2022)
Background: Child abuse is one of the leading causes of morbidity and mortality worldwide. This study aimed to identify whether the approach to the diagnosis of child abuse was comprehensive in a tertiary care hospital. Methods: We conducted a retros
Externí odkaz:
https://doaj.org/article/3195a5faf68b434e9cf8f60e3d6f0ffa
Autor:
Magdalena Cerón-Rodríguez, Edgar Ricardo Vázquez-Martínez, Constanza García-Delgado, Alberto Ortega-Vázquez, Pedro Valencia-Mayoral, Lyuva Ramírez-Devars, Christian Arias-Villegas, Irma Eloísa Monroy-Muñoz, Marisol López, Alicia Cervantes, Marco Cerbón, Verónica Fabiola Morán-Barroso
Publikováno v:
Annals of Hepatology, Vol 18, Iss 4, Pp 613-619 (2019)
Introduction and Objectives: Niemann-Pick disease type A (NPD-A) and B (NPD-B) are lysosomal storage diseases with a birth prevalence of 0.4–0.6/100,000. They are caused by a deficiency in acid sphingomyelinase, an enzyme encoded by SMPD1. We analy
Externí odkaz:
https://doaj.org/article/2860933d119f4801b5f959487eaff78c
Autor:
Magdalena Cerón‐Rodríguez, Guillermo Ramón‐García, Edgar Barajas‐Colón, Isidro Franco‐Álvarez, Juan L. Salgado‐Loza
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Abstract Background Fabry disease (FD) has an extensive phenotypic expression associated with GLA gene variants. The GLA gene variant c.352C>T/p.Arg118Cys was considered with uncertain pathogenicity because of the finding of high residual alpha‐gal
Externí odkaz:
https://doaj.org/article/583cf8094c764129a96da900bc5f4403