Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Danny Alvarado-Romero"'
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:
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
Publikováno v:
Acta Médica Costarricense. 63:138-141
Se reporta el caso de una paciente adulta, asintomática, sin historial familiar de anemia o enfermedades crónicas, atendida en el Laboratorio Clínico del Área de Salud de Aserrí que acude a control salud por seguimiento a tratamiento de anemia.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c66a9ec4195704b5a222b2420ef2c71
https://doi.org/10.51481/amc.v63i2.1195
https://doi.org/10.51481/amc.v63i2.1195
Autor:
Mildred Jiménez-Hernández, Alejandra Chavez Carrera, Sharon Segura‐Cordero, Francisco Hevia-Urrutia, Monica Penon-Portmann, Danny Alvarado-Romero, Alfredo Mora‐Guevara, Gabriela Jiménez‐Arguedas, Stephanie Lotz-Esquivel, Ramsés Badilla‐Porras, Fiorella Rimolo‐Donadio, Manuel Saborío-Rocafort
Publikováno v:
JIMD Reports, Vol 52, Iss 1, Pp 55-62 (2020)
JIMD Reports
JIMD Reports
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 for WD be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56e1e54a98e467cf1c3bbbc18208a903
https://pubmed.ncbi.nlm.nih.gov/32154060
https://pubmed.ncbi.nlm.nih.gov/32154060
Autor:
Wagner, Ramírez-Quesada, Francisco, Hevia-Urrutia, Marlon, Rojas-Alvarado, Fernando, Brenes-Pino, Eduardo, Alfaro-Alcocer, Johanna, Sauma-Rodríguez, Manuel, Saborío-Rocafort, Mildred, Jiménez-Hernández, Natassia, Camacho-Matamoros, Danny, Alvarado-Romero
Publikováno v:
Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del Peru. 39(2)
Alfa 1-antitrypsin deficiency is one of the most prevalent genetic diseases in the human being, sadly it is not a commonly suspected clinical entity. With more than 100 known mutations, those associated with hepatic disease are the Z homocygote allel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::55e661bff68901e16817132ed1cd4d7d
https://pubmed.ncbi.nlm.nih.gov/31333228
https://pubmed.ncbi.nlm.nih.gov/31333228
SAT-LB049 Identification of a Rare Mutation in Congenital Adrenal Hyperplasia Patients in Costa Rica
Autor:
Danny Alvarado Romero, Mildred Jiménez Hernández, María José Acuña Navas, Fred Cavallo Aita, Andrés Umaña Calderón
Publikováno v:
Journal of the Endocrine Society
Abstract: Congenital adrenal hyperplasia (CAH) is a group of enzymatic defects in cortisol biosynthesis. Steroid 21-hydroxylase deficiency accounts for greater than 90% of cases. Newborn screening has allowed for early detection of cases and currentl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b54107c201d54fbe7f58fe92cf45a15
http://europepmc.org/articles/PMC6551931
http://europepmc.org/articles/PMC6551931