Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Ramsés Badilla Porras"'
Publikováno v:
Ciencia & Salud, Vol 7, Iss 4 (2023)
La hemocromatosis hereditaria tipo I representa el error innato del metabolismo más común en la población general. Todos los tipos de hemocromatosis se caracterizan por la sobrecarga de hierro, cuyo exceso se deposita en diferentes órganos y prod
Externí odkaz:
https://doaj.org/article/8bed74c21e764eba9d8afe3f3122a731
Autor:
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
Publikováno v:
Nutrients, Vol 13, Iss 8, 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://doaj.org/article/ad97cad67b3a42a693279879fe3c78d8
Autor:
Paula Molina‐Céspedes, Ernesto José Ruiz‐Golcher, Oscar Badilla‐Barboza, Giovanni Sedó‐Mejía, Laura Barboza‐Rodríguez, Ramsés Badilla‐Porras
Publikováno v:
Clinical Case Reports. 11
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
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
Autor:
Paul Kruszka, Antonio R. Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D. Gill, Alec P. Boyle, Tommy Hu, Yonit A. Addissie, Gary T. K. Mok, Cedrik Tekendo‐Ngongang, Karen Fieggen, Eloise J. Prijoles, Pranoot Tanpaiboon, Engela Honey, Ho‐Ming Luk, Ivan F. M. Lo, Meow‐Keong Thong, Premala Muthukumarasamy, Kelly L. Jones, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Laila Bouguenouch, Anju Shukla, Katta M. Girisha, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. Sampath Paththinige, Rupesh Mishra, Monisha S. Kisling, Carlos R. Ferreira, María Beatriz de Herreros, Ni‐Chung Lee, Saumya S. Jamuar, Angeline Lai, Ee Shien Tan, Jiin Ying Lim, Cham Breana Wen‐Min, Neerja Gupta, Stephanie Lotz‐Esquivel, Ramsés Badilla‐Porras, Dalia Farouk Hussen, Mona O. El Ruby, Engy A. Ashaat, Siddaramappa J. Patil, Leah Dowsett, Alison Eaton, A. Micheil Innes, Vorasuk Shotelersuk, Ëben Badoe, Ambroise Wonkam, María Gabriela Obregon, Brian H. Y. Chung, Milana Trubnykova, Jorge La Serna, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca Barriga, Andre Megarbane, Beth A. Kozel, Mieke M. van Haelst, Roger E. Stevenson, Marshall Summar, A. Adebowale Adeyemo, Colleen A. Morris, Danilo Moretti‐Ferreira, Marius George Linguraru, Maximilian Muenke
Publikováno v:
American Journal of Medical Genetics Part A. 176
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