-
1دورية أكاديمية
المؤلفون: 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
المصدر: Annals of Hepatology, Vol 28, Iss , Pp 101045- (2023)
مصطلحات موضوعية: Specialties of internal medicine, RC581-951
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: 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
المصدر: Annals of Hepatology, Vol 28, Iss , Pp 101048- (2023)
مصطلحات موضوعية: Specialties of internal medicine, RC581-951
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Rebeca Vindas-Smith, Andrey Sequeira-Cordero, Isabel Castro-Volio, Patricia Jiménez-González, Patricia Cuenca, Manuel Saborío-Rocafort, Marietha Fallas, Melissa Vásquez
المصدر: Revista Mexicana de Neurociencia, Vol 23, Iss 2 (2022)
مصطلحات موضوعية: Autism spectrum disorder. Fragile X syndrome. Intermediate allele. Expanded allele. FMR1., Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
-
4دورية أكاديمية
المؤلفون: 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
المصدر: JIMD Reports, Vol 52, Iss 1, Pp 55-62 (2020)
مصطلحات موضوعية: acute liver failure, ATP7B, genotype and phenotype, pediatric, Wilson disease, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
-
5دورية أكاديمية
المؤلفون: Soraia Poloni, Bruna Bento dos Santos, Ana Chiesa, Norma Specola, Marcela Pereyra, Manuel Saborío-Rocafort, María Florencia Salazar, María Jesús Leal-Witt, Gabriela Castro, Felipe Peñaloza, Sunling Palma Wong, Ramsés Badilla Porras, Lourdes Ortiz Paranza, Marta Cristina Sanabria, Marcela Vela Amieva, Marco Morales, Amanda Rocío Caro Naranjo, Antonieta Mahfoud, Ana Rosa Colmenares, Aida Lemes, José Fernando Sotillo-Lindo, Ceila Perez, Laritza Martínez Rey, Georgina María Zayas Torriente, Lilia Farret Refosco, Ida Vanessa Doederlein Schwartz, Veronica Cornejo
المصدر: Nutrients, Vol 13, Iss 8, p 2566 (2021)
مصطلحات موضوعية: phenylketonuria, PKU, low-protein diet, newborn screening, Nutrition. Foods and food supply, TX341-641
وصف الملف: electronic resource
-
6دورية أكاديمية
المصدر: Revista de Biología Tropical, Vol 56, Iss 3, Pp 995-1001 (2008)
مصطلحات موضوعية: hemoglobinopatías, tamizaje neonatal, anemia drepanocítica, isoelectro-enfoque, Hemoglobina S, Hemoglobina C, Costa Rica, hemoglobinopathy, neonatal screening, sickle cell disease, iso-electric focusing technique, hemoglobin S, hemoglobin C, Biology (General), QH301-705.5
وصف الملف: electronic resource
-
7دورية أكاديمية
المصدر: Revista de Biología Tropical, Vol 52, Iss 3, Pp 451-466 (2004)
مصطلحات موضوعية: Tamizaje neonatal, alto riesgo, discapacidades, enfermedades metabólicas hereditarias, hipertirodismo congénito, Newborn screening, high risk, disabilities, inherited metabolic diseases, congenital hypothyroidism, Biology (General), QH301-705.5
وصف الملف: electronic resource
-
8
المؤلفون: Rebeca Vindas-Smith, Andrey Sequeira-Cordero, Isabel Castro-Volio, Patricia Jiménez-González, Patricia Cuenca, Manuel Saborío-Rocafort, Marietha Fallas, Melissa Vásquez
المصدر: Revista Mexicana de Neurociencia, vol.23(2), pp.51-56.
Kérwá
Universidad de Costa Rica
instacron:UCRمصطلحات موضوعية: Síndrome del cromosoma X frágil, Neuropsychology and Physiological Psychology, Expanded allele, Alelo expandido, Neurology, Alelo intermedio, Public Health, Environmental and Occupational Health, Neurology (clinical), Trastorno del espectro autista, Autism spectrum disorder, Intermediate allele, FMR1, Fragile X syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::195eb4f078ba1a1cf8f451d6f73a932d
https://www.revmexneurociencia.com/frame_esp.php?id=171 -
9
المؤلفون: 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
المصدر: Nutrients
Volume 13
Issue 8
Nutrients, Vol 13, Iss 2566, p 2566 (2021)مصطلحات موضوعية: 0301 basic medicine, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Latin Americans, Health Personnel, Phenylalanine, Purchasing power, phenylketonuria, 030105 genetics & heredity, Article, 03 medical and health sciences, 0302 clinical medicine, Neonatal Screening, Food Labeling, Environmental health, Phenylketonurias, Analysis software, Medicine, Humans, TX341-641, Child, Final version, Food, Formulated, Newborn screening, Nutrition and Dietetics, business.industry, Nutrition. Foods and food supply, newborn screening, Dietary management, Infant, Newborn, Disease Management, Infant, nutritional and metabolic diseases, low-protein diet, Health Surveys, Diet, Latin America, PKU, Multicenter survey, Pilot test, business, 030217 neurology & neurosurgery, Food Science
وصف الملف: application/pdf
-
10
المؤلفون: 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
المصدر: Gastroenterology. 162:S-1200
مصطلحات موضوعية: Hepatology, Gastroenterology