Zobrazeno 1 - 10 of 30 pro vyhledávání: '"Magdalena Cerón Rodríguez"'
2
Akademický článek
Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study
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
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3
Akademický článek
Description of the initial approach to patients with suspected child abuse in the emergency department of a pediatric hospital
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
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4
Akademický článek
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population
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
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5
Akademický článek
Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study
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
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6
Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data
Autor: Shoshana Revel-Vilk, Michal Becker-Cohen, Barbara Rubio, Radka Stefanova Tincheva, Tama Dinur, Predrag Rodic, Beata Kieć-Wilk, Ari Zimran, Uma Ramaswami, Majdolen Istaiti, Alicia Chan, Beom Hee Lee, Chia-Feng Yang, Walla Al-Hertani, Magdalena Cerón-Rodríguez, Daniela Castillo-García, Agata Fiumara
Publikováno v: American Journal of Hematology. 96:545-551
Ambroxol hydrochloride is an oral mucolytic drug available over-the-counter for many years as cough medicine. In 2009 it was identified as a pharmacological chaperone for mutant glucocerebrosidase, albeit in a several-fold higher dose. Unfortunately,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48679ccb66fb42e228cab6de1e853d59
https://doi.org/10.1002/ajh.26131
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7
Clinical Spectrum of COVID-19 in a Mexican Pediatric Population
Autor: Edgar Bustos-Cordova, Magdalena Cerón-Rodríguez, Daniela Castillo-García, Nadia Soler-Quinones
Publikováno v: Indian Pediatrics
Objective To describe the broader clinical spectrum of COVID-19 in children. Methods In this descriptive, prospective study, we included confirmed pediatric patients with COVID-19 who presented to the emergency department of a pediatric tertiary care
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a7a196189a96f0d78005bcb9f5818b3
http://europepmc.org/articles/PMC7926068
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8
Clinical Spectrum of COVID-19 in a Pediatric Mexican Population
Autor: Nadia Soler-Quinones, Daniela Castillo-García, Magdalena Cerón-Rodríguez, Edgar Bustos-Cordova
ObjectiveFrom the beginning of the COVID-19 pandemic, it has become evident that the spectrum of manifestations in children is different from those seen in adults. In this study, we aimed to describe a broader clinical spectrum of COVID-19 in childre
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c3712c1e6a4b7d28a77228ae3116765
https://doi.org/10.21203/rs.3.rs-81586/v3
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10
Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in children with Gaucher disease type 1
Autor: Juan L. Salgado-Loza, Edgar Barajas-Colón, Lyuva Ramírez-Devars, Magdalena Cerón-Rodríguez, Claudia Gutiérrez-Camacho
Publikováno v: Molecular Genetics & Genomic Medicine
Background Gaucher disease type 1 (GD1, OMIM# 230800), is a condition with high impact in patient's quality of life (QoL). We report the improvement in QoL of children with GD1 measured by Lansky play-performance scale (LS) after enzymatic replacemen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e0d739ddc292461cacbc6d08627d0a2
http://europepmc.org/articles/PMC5823673
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