Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Manuel Saborío Rocafort"'
Autor:
Rebeca Vindas-Smith, Andrey Sequeira-Cordero, Isabel Castro-Volio, Patricia Jiménez-González, Patricia Cuenca, Manuel Saborío-Rocafort, Marietha Fallas, Melissa Vásquez
Publikováno v:
Revista Mexicana de Neurociencia, Vol 23, Iss 2 (2022)
Objective: We aimed to determine the distribution of intermediate and expanded FMR1 alleles in Costa Rican individuals diagnosed with autism. Materials and methods: A total of 212 autism spectrum disorder (ASD) cases of Costa Rican individuals and 94
Externí odkaz:
https://doaj.org/article/efbb50cd112547a4af14c6b3c224c377
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:
Rebeca Vindas-Smith, Andrey Sequeira-Cordero, Isabel Castro-Volio, Patricia Jiménez-González, Patricia Cuenca, Manuel Saborío-Rocafort, Marietha Fallas, Melissa Vásquez
Publikováno v:
Revista Mexicana de Neurociencia, vol.23(2), pp.51-56.
Kérwá
Universidad de Costa Rica
instacron:UCR
Kérwá
Universidad de Costa Rica
instacron:UCR
Objective: We aimed to determine the distribution of intermediate and expanded FMR1 alleles in Costa Rican individuals diagnosed with autism. Materials and methods: A total of 212 autism spectrum disorder (ASD) cases of Costa Rican individuals and 94
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::195eb4f078ba1a1cf8f451d6f73a932d
https://www.revmexneurociencia.com/frame_esp.php?id=171
https://www.revmexneurociencia.com/frame_esp.php?id=171
Autor:
Ana Chiesa, Ana Rosa Colmenares, Aida Lemes, Ramsés Badilla Porras, Ceila Perez, Georgina María Zayas Torriente, José Fernando Sotillo-Lindo, Lourdes Ortiz Paranza, Antonieta Mahfoud, Manuel Saborío-Rocafort, Marcela Pereyra, Marco Morales, Bruna Bento dos Santos, Lilia Farret Refosco, María Jesús Leal-Witt, Sunling Palma Wong, Gabriela Castro, Soraia Poloni, Felipe Peñaloza, Verónica Cornejo, Norma Spécola, Laritza Martínez Rey, Marta Sanabria, Amanda Rocío Caro Naranjo, Ida Vanessa Doederlein Schwartz, Marcela Vela Amieva, María Florencia Salazar
Publikováno v:
Nutrients
Volume 13
Issue 8
Nutrients, Vol 13, Iss 2566, p 2566 (2021)
Volume 13
Issue 8
Nutrients, Vol 13, Iss 2566, p 2566 (2021)
This study aimed to describe the current practices in the diagnosis and dietary management of phenylketonuria (PKU) in Latin America, as well as the main barriers to treatment. We developed a 44-item online survey aimed at health professionals. After
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b95a2e262c7661b4f4e6c20383ac217f
Autor:
Jessica Arroyo Hernandez, Juan D. Gutiérrez Ávila, Mariela Solano Vargas, Danny Alvarado, Mildred Jiménez Hernández, Manuel Saborío Rocafort, Francisco Vargas-Navarro, Aldo Carvajal González, Wagner E. Ramirez-Quesada, Adrian Gonzalez-Ulloa, Karina H. Morales, Esteban Cob Guillen, Jorge Vargas, Ana L. Madrigal Méndez, Francicso J. Hevia
Publikováno v:
Gastroenterology. 162:S-1200
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea5cfdc6ffe9fa27082ad1b7bd0cb1e1
https://doi.org/10.1016/s0016-5085(22)63560-1
https://doi.org/10.1016/s0016-5085(22)63560-1
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
Autor:
Cecilia Monge-Bonilla, Marcela Barguil-Gallardo, Marta Sánchez-Molina, Oscar Méndez-Blanca, Álvaro Sánchez-Siles, Ileana Alvarado-Echeverría, Luis Meza-Sierra, Alexander Parajeles-Vindas, Francisco Hevia-Urrutia, Manuel Saborío-Rocafort, Iliana Chavarría-Quirós, Alfredo Sanabria-Castro
Publikováno v:
Hepatology, Medicine and Policy
Hepatology, Medicine and Policy, Vol 2, Iss 1, Pp 1-6 (2016)
Hepatology, Medicine and Policy, Vol 2, Iss 1, Pp 1-6 (2016)
Wilson’s disease is an inherited disorder in which defective biliary excretion of copper leads to its accumulation, particularly in the liver and brain. Mutations in the ATP7B gene on chromosome 13 cause Wilson’s disease. If left untreated it wil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::643e1ffcb9b6fe39cdf862a2201fceca