Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Mildred Jimenez"'
Autor:
Danny Alvarado, Jorge Andres Herrera Corrales, Mildred Jimenez, Karina Hidalgo, Fernanda Vasquez, Francisco Vargas, Jorge Vargas, Francisco Hevia Urrutia
Publikováno v:
Annals of Hepatology, Vol 29, Iss , Pp 101610- (2024)
Conflict of interest: No Introduction and Objectives: In a recent article from the American Journal of Human Genetics, the genetic behavior of variants associated with Wilson's Disease (WD) is analyzed, alongside the worldwide discovery of the respon
Externí odkaz:
https://doaj.org/article/3614c364ecb244f2a0f1f0e3d4bef67f
Autor:
Jorge Andres Herrera Corrales, Francisco Hevia Urrutia, Danny Alvarado, Fernanda Vasquez Carit, Francisco Vargas Navarro, Jorge Eduardo Vargas Madrigal, Karina Hidalgo, Mildred Jimenez
Publikováno v:
Annals of Hepatology, Vol 29, Iss , Pp 101645- (2024)
Conflict of interest: No Introduction and Objectives: Acute liver failure (ALF) can be defined as a complex clinical syndrome characterized by coagulopathy, alteration in liver biochemistry and encephalopathy in a patient without underlying chronic l
Externí odkaz:
https://doaj.org/article/f63b5996385d486e937ef205d4a74b12
Autor:
Fernanda Vásquez Carit, Francisco Hevia Urrutia, Jorge Vargas Madrigal, Mildred Jiménez Hernández, Natassia Camacho Matamoros, Danny Alvarado Romero, Jorge Herrera Corrales
Publikováno v:
Annals of Hepatology, Vol 29, Iss , Pp 101628- (2024)
Conflict of interest: No Introduction and Objectives: Alpha-1 antitrypsin (A1AT) levels are normal in up to 20% of liver diseases, and this protein elevates in inflammatory states, causing false negatives. This disease does not follow an autosomal re
Externí odkaz:
https://doaj.org/article/824bb847ba0f4a5f9fbf285a38983804
Autor:
Francisco Hevia, Mónica Penón, Stephanie Lotz, Alfredo Mora, Gabriela Jiménez, Ramsés Badilla, Mildred Jiménez, Manuel Saborío, Karina Hidalgo, Adrián González, Francisco Vargas, Wagner Ramirez, Esteban Cob, Aldo Carvajal, Ana Lorena Madrigal, José Pablo Cortes, Jorge Vargas, Danny Alvarado
Publikováno v:
Annals of Hepatology, Vol 28, Iss , Pp 101045- (2023)
Introduction and Objectives: Mccullough published in 1983 a series of 3 cases from the Mayo Clinic and nine from the rest of the world, proposing a specific clinical entity of Wilson´s disease (WD) with a fatal outcome if not transplanted. Costa Ric
Externí odkaz:
https://doaj.org/article/5ace67aeec124a2d938797f49189a2da
Autor:
Mariela Solano-Vargas, Juan Diego Gutiérrez-Ávila, Jessica Arroyo-Hernández, Danny Alvarado-Romero, Natassia Camacho-Matamoros, Mildred Jiménez-Hernández
Publikováno v:
Annals of Hepatology, Vol 28, Iss , Pp 101049- (2023)
Introduction and Objectives: Alpha-1 antitrypsin (AAT) is an acute-phase glycoprotein encoded by the SERPINA1 gene. This allele has a codominant expression and Alpha-1 antitrypsin deficiency (AATD) is caused by the inheritance of two affected alleles
Externí odkaz:
https://doaj.org/article/42be1b7ff90041f2bd25268c5278c74e
Autor:
Francisco Hevia, Daniela Hernández, Alfredo Mora, Ramsés Badilla, Natassia Camacho, Mildred Jiménez, Manuel Saborío, Karina Hidalgo, Adrián González, Francisco Vargas, Wagner Ramírez, Esteban Cob, Aldo Carvajal, Ana Lorena Madrigal, José Pablo Cortes, Jorge Vargas, Danny Alvarado
Publikováno v:
Annals of Hepatology, Vol 28, Iss , Pp 101048- (2023)
Introduction and Objectives: It's common to include alfa 1 antitrypsin deficiency (AATD) in the diagnostic workup of children with cirrhosis, unlike in adults, where we seldom test for it. Some of its characteristics are unusual and we can miss them
Externí odkaz:
https://doaj.org/article/9c2d6629902c40e4848ac42db71b1880
Autor:
Monica Penon‐Portmann, Stephanie Lotz‐Esquivel, Alejandra Chavez Carrera, Mildred Jiménez‐Hernández, Danny Alvarado‐Romero, Sharon Segura‐Cordero, Fiorella Rimolo‐Donadio, Francisco Hevia‐Urrutia, Alfredo Mora‐Guevara, Manuel Saborío‐Rocafort, Gabriela Jiménez‐Arguedas, Ramsés Badilla‐Porras
Publikováno v:
JIMD Reports, Vol 52, Iss 1, Pp 55-62 (2020)
Abstract Introduction The prevalence of Wilson disease (WD) in Costa Rica is among the highest reported in the world, 4.9:100 000. Previous investigators have also described a burden of autosomal recessive conditions in this country. Genetic testing
Externí odkaz:
https://doaj.org/article/1a193398fcd844faa43ef76b7306a0b8
Autor:
Andrés Umaña-Calderón, María José Acuña-Navas, Danny Alvarado, Mildred Jiménez, Fred Cavallo-Aita
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100728- (2021)
Steroid 21-hydroxylase deficiency accounts for 95% of congenital adrenal hyperplasia (CAH) cases. Newborn screening has allowed for early detection of the disease, and currently, molecular analysis can identify the genotypes of these patients. Phenot
Externí odkaz:
https://doaj.org/article/03aa07d373dd45db9c885f06b88ee6ec
Publikováno v:
Acta Médica Costarricense, Vol 56, Iss 4, Pp 180-182 (2014)
La mucopolisacaridosis tipo II es una enfermedad lisosomal producida por la deficiencia de la enzima iduronato 2 sulfatasa. Es una condición infrecuente de herencia recesiva ligada al X, que puede producir importante discapacidad progresiva. El aná
Externí odkaz:
https://doaj.org/article/169e71910b454cdc85cf914ef7151631
Publikováno v:
Revista Clínica de la Escuela de Medicina UCR-HSJD, Vol 2, Iss 9 (2011)
Externí odkaz:
https://doaj.org/article/fa6ffa5cb0174dd19275537a1e5a6df1