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Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization
by
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
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JIMD reports
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P-14 DETECTION OF CIRRHOSIS DUE TO ALPHA-1 ANTITRYPSIN DEFICIENCY IN ADULTS: PHENOTYPE STUDY IN COSTA RICA
by
Carit, Fernanda Vásquez
,
Urrutia, Francisco Hevia
,
Madrigal, Jorge Vargas
,
Hernández, Mildred Jiménez
,
Matamoros, Natassia Camacho
,
Romero, Danny Alvarado
,
Corrales, Jorge Herrera
Published in
Annals of hepatology
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O-42 COSTA RICA NATIONAL NEWBORN SCREENING LABORATORY´S EXPERIENCE IN DIAGNOSING ALPHA-1 ANTITRYPSIN DEFICIENCY
by
Solano-Vargas, Mariela
,
Gutiérrez-Ávila, Juan Diego
,
Arroyo-Hernández, Jessica
,
Alvarado-Romero, Danny
,
Camacho-Matamoros, Natassia
,
Jiménez-Hernández, Mildred
Published in
Annals of hepatology
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SAT-LB049 Identification of a Rare Mutation in Congenital Adrenal Hyperplasia Patients in Costa Rica
by
Umaña Calderón, Andrés
,
Acuña Navas, María José
,
Alvarado Romero, Danny
,
Jiménez Hernández, Mildred
,
Cavallo Aita, Fred
Published in
Journal of the Endocrine Society
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