Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization
Penon‐Portmann, Monica, Lotz‐Esquivel, Stephanie, Chavez Carrera, Alejandra, Jiménez‐Hernández, Mildred, Alvarado‐Romero, Danny, Segura‐Cordero, Sharon, Rimolo‐Donadio, Fiorella, Hevia‐Urrutia, Francisco, Mora‐Guevara, Alfredo, Saborío‐Rocafort, Manuel, Jiménez‐Arguedas, Gabriela, Badilla‐Porras, Ramsés
Published in JIMD reports (01.03.2020)
Published in JIMD reports (01.03.2020)
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Journal Article
O-42 COSTA RICA NATIONAL NEWBORN SCREENING LABORATORY´S EXPERIENCE IN DIAGNOSING ALPHA-1 ANTITRYPSIN DEFICIENCY
Solano-Vargas, Mariela, Gutiérrez-Ávila, Juan Diego, Arroyo-Hernández, Jessica, Alvarado-Romero, Danny, Camacho-Matamoros, Natassia, Jiménez-Hernández, Mildred
Published in Annals of hepatology (01.03.2023)
Published in Annals of hepatology (01.03.2023)
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Journal Article
SAT-LB049 Identification of a Rare Mutation in Congenital Adrenal Hyperplasia Patients in Costa Rica
Umaña Calderón, Andrés, Acuña Navas, María José, Alvarado Romero, Danny, Jiménez Hernández, Mildred, Cavallo Aita, Fred
Published in Journal of the Endocrine Society (30.04.2019)
Published in Journal of the Endocrine Society (30.04.2019)
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Journal Article
ALFA-1 antitrypsin deficiency, a commonly missed cause of chronic liver disease in theadult: presentation of 9 cases with review of current literature
Ramírez-Quesada, Wagner, Hevia-Urrutia, Francisco, Rojas-Alvarado, Marlon, Brenes-Pino, Fernando, Alfaro-Alcocer, Eduardo, Sauma-Rodríguez, Johanna, Saborío-Rocafort, Manuel, Jiménez-Hernández, Mildred, Camacho-Matamoros, Natassia, Alvarado-Romero, Danny
Published in Revista de gastroenterología del Perú (01.04.2019)
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Published in Revista de gastroenterología del Perú (01.04.2019)
Journal Article
Déficit de Alfa-1 antitripsina, una causa de hepatopatía crónica comúnmente insospechada en el adulto: presentación de 9 casos con revisión de literatura
Ramírez-Quesada, Wagner, Hevia-Urrutia, Francisco, Rojas-Alvarado, Marlon, Brenes-Pino, Fernando, Alfaro-Alcocer, Eduardo, Sauma-Rodríguez, Johanna, Saborío-Rocafort, Manuel, Jiménez-Hernández, Mildred, Camacho-Matamoros, Natassia, Alvarado- Romero, Danny
Published in Revista de gastroenterología del Perú (01.04.2019)
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Published in Revista de gastroenterología del Perú (01.04.2019)
Journal Article