ID293 Triagem neonatal para galactosemia: avaliação econômica de custo-efetividade e impacto orçamentário no brasil by Ney Boa Sorte, Fabiana Raynal Floriano, Jose Simon, Ivan Zimmermann, Tatiana Amorim

Get full text

IRT/IRT as a newborn cystic fibrosis screening method: optimal cutoff points for a mixed population by Carolina Godoy, Pedro Paulo Brito, Tatiana Amorim, Edna Lúcia Souza, Ney Boa-Sorte

Get full text

Hemoglobin A2 values in sickle cell disease patients quantified by high performance liquid chromatography and the influence of alpha thalassemia by Silvana Fahel da Fonseca, Tatiana Amorim, Antônio Purificação, Marilda Gonçalves, Ney Boa-Sorte

Get full text

Dried blood spot testing for the antenatal screening of HTLV, HIV, syphilis, toxoplasmosis and hepatitis B and C: prevalence, accuracy and operational aspects by Ney Boa-Sorte, Antônio Purificação, Tatiana Amorim, Lorena Assunção, Alan Reis, Bernardo Galvão-Castro

Get full text

METABOLIC CONTROL AND BODY COMPOSITION OF CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA by Zeni Drubi Nogueira, Ney Boa-Sorte, Maria Efigênia de Queiroz Leite, Maria Betânia Pereira Toralles, Tatiana Amorim

Get full text

Breastfeeding and the anthropometric profile of children with sickle cell anemia receiving follow-up in a newborn screening reference service by Zeni Drubi Nogueira, Ney Boa-Sorte, Maria Efigênia de Queiroz Leite, Márcia Miyuki Kiya, Tatiana Amorim, Silvana Fahel da Fonseca

Get full text

Five-year performance analysis of a cystic fibrosis newborn screening program in northeastern Brazil by Carolina Godoy, Danielle C. Paixão, Ney C.A. Boa-Sorte, Tatiana Amorim, Luiz Vicente R.F. da Silva Filho, Edna Lúcia Souza

Get full text

The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis by Taise Lima de Oliveira Cerqueira, Yanne Ramos, Giorgia Strappa, Daniel San Martin, Mariana Jesus, Jailciele Gonzaga, Paulo Ferreira, Anabel Costa, Vladimir Fernandes, Tatiana Amorim, Ana Marice Ladeia, Helton Ramos

Get full text

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives by Francyne Kubaski, Inês Sousa, Tatiana Amorim, Danilo Pereira, Joe Trometer, Alexandre Souza, Enzo Ranieri, Giulia Polo, Alberto Burlina, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto, Shunji Tomatsu, Roberto Giugliani

Get full text

Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico by Ana Chiesa, Norma Spécola, Monique Poubel, Marcela Vela-Amieva, Elaina Jurecki, Daniel RF Vilela, Débora Mesojedovas, Giovanna Cavalcanti Carneiro, Hernán Eiroa, Keila Hayashi Nakamura, Marcela Lopes de Almeida, Roberta Brandão Cunha, Tatiana Amorim, Ida Vanessa Doederlein Schwartz

Get full text

Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis by Taíse Lima de Oliveira Cerqueira, Yanne Rocha Ramos, Giorgia Bruna Strappa, Mariana Souza de Jesus, Jailciele Gonzaga Santos, Camila Sousa, Gildásio Carvalho, Vladimir Fernandes, Ney Boa-Sorte, Tatiana Amorim, Thiago Magalhães Silva, Ana Marice Teixeira Ladeia, Angelina Xavier Acosta, Helton Estrela Ramos

Get full text

Population medical genetics: translating science to the community by Roberto Giugliani, Fernanda Bender, Rowena Couto, Aline Bochernitsan, Ana Carolina Brusius-Facchin, Maira Burin, Tatiana Amorim, Angelina Xavier Acosta, Antônio Purificação, Sandra Leistner-Segal, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Ursula Matte, Mariluce Riegel, Augusto César Cardoso-dos-Santos, Graziella Rodrigues, Marcelo Zagonel de Oliveira, Alice Tagliani-Ribeiro, Selia Heck, Vanusa Dresch, Lavínia Schuler-Faccini, Francyne Kubaski

Get full text

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity by Ana Vitoria Barban Margutti, Wilson Araújo Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, Emerson de Santana Santos, Mara Lúcia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo

Get full text

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

Get full text