日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network

巴西罕见病流行病学特征:巴西罕见病网络的回顾性研究

de Oliveira, Bibiana Mello; Bernardi, Filipe Andrade; Baiochi, João Francisco; Neiva, Mariane Barros; Artifon, Milena; Vergara, Alberto Andrade; Martins, Ana Maria; Grumach, Anete Sevciovic; Acosta, Angelina Xavier; Husny, Antonette Souto El; de Freitas Rodrigues Ribeiro, Bethania; Ramos, Camila Ferreira; Steiner, Carlos Eduardo; Kim, Chong Ae; Christofolini, Denise Maria; Yamada, Diego Bettiol; Carvalho, Ellaine Doris Fernandes; Ribeiro, Erlane Marques; de Arruda Bastos, Fabíola; Serpa, Faradiba Sarquis; Brandão, Flávia Reseda; Adjuto, Giselle Maria Araujo Felix; Carvalho, Isabelle; Saute, Jonas Alex Morales; Junior, Juan Clinton Llerena; Bueno, Larissa Souza Mario; da Silva, Luiz Carlos Santana; Santos, Mara Lucia Schmitz Ferreira; Costa, Marcela Câmara Machado; Giusti, Marcia Maria Costa Giacon; Galera, Marcial Francis; Filho, Márcio Eloi Colombo; de Andrade, Maria Denise Fernandes Carvalho; De Oliveira Cardoso, Maria Teresinha; de Menezes Ferreira, Marilaine Matos; Zeny, Michelle; Caldato, Milena Coelho Fernandes; Sorte, Ney Boa; Musolino, Nina Rosa de Castro; de Medeiros, Paula Frassinetti Vasconcelos; Zen, Paulo Ricardo Gazzola; Da Silva, Raquel Tavares Boy; Maia, Rayana Elias; Fock, Rodrigo; Almeida, Rosemarie Elizabeth Schimidt; Valle, Solange Oliveira Rodrigues; Amorim, Tatiana; Teixeira, Thaís Bomfim; Prazeres, Vania Mesquita Gadelha; de Faria Ferraz, Victor Evangelista; Lima, Vinicius Costa; Paiva, Wagner José Martins; Schwartz, Ida Vanessa Doederlein; Alves, Domingos; Félix, Têmis Maria

Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa

拉丁美洲经典型和非典型晚期婴儿神经元蜡样脂褐质沉积症:临床和遗传学特征,以及使用 Cerliponase Alfa 治疗的结果

Guelbert, Norberto; Espitia Segura, Oscar Mauricio; Amoretti, Carolina; Arteaga Arteaga, Angélica; Atanacio, Nora Graciela; Bazan Natacha, Sabrina; Carvalho, Ellaine Doris Fernandes; Carvalho de Andrade, Maria Denise Fernandes; Denzler, Inés María; Durand, Consuelo; Ribeiro, Erlane; Giugni, Juan Carlos; González, Gabriel; González Moron, Dolores; Guelbert, Guillermo; Hernández Rodriguez, Zulma Janneth; Embiruçu Emilia, Katiane; Kauffman, Marcelo Andrés; Mancilla, Nury Isabel; Marcon, Laureano; Marques Pereira, Alessandra; Fischinger Moura de Souza, Carolina; Muñoz, Victor Adrián; Naranjo Flórez, Ricardo Andrés; Pessoa, André Luiz; Ruiz, María Victoria; Solano Villareal, Martha Luz; Spécola, Norma; Tavera, Lina Marcela; Tello, Javiera; Troncoso Schifferli, Mónica; Ugrina, Sonia; Vaccarezza, María Magdalena; Vergara, Diane; Villanueva, María Mercedes

Infantile hypothyroidism and its relationship with delayed tooth eruption: A case report

婴儿甲状腺功能减退症及其与牙齿萌出延迟的关系:病例报告

Carvalho, Isabella-Fernandes; Amorim, Arine-Alcoforado; da Silva, Paulo-Tárcio-Aded; de Andrade, Maria-Denise-Fernandes-Carvalho; Carvalho, Ellaine-Doris-Fernandes; Freitas, Rheryda-de Sousa-Rocha-Pereira; Neto, José-Higino-da Silva; Couto, José-Luciano-Pimenta