Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Ana Marcão"'
Autor:
Maria Miguel Gonçalves, Ana Marcão, Carmen Sousa, Célia Nogueira, Helena Fonseca, Hugo Rocha, Laura Vilarinho
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 25 (2024)
The Portuguese Neonatal Screening Program (PNSP) conducts nationwide screening for rare diseases, covering nearly 100% of neonates and screening for 28 disorders, including 24 inborn errors of metabolism (IEMs). The study’s purpose is to assess the
Externí odkaz:
https://doaj.org/article/3a1cc85a6a2145ff98cd22697fddbe32
Autor:
Filipa Ferreira, Luísa Azevedo, Raquel Neiva, Carmen Sousa, Helena Fonseca, Ana Marcão, Hugo Rocha, Célia Carmona, Sónia Ramos, Anabela Bandeira, Esmeralda Martins, Teresa Campos, Esmeralda Rodrigues, Paula Garcia, Luísa Diogo, Ana Cristina Ferreira, Silvia Sequeira, Francisco Silva, Luísa Rodrigues, Ana Gaspar, Patrícia Janeiro, António Amorim, Laura Vilarinho
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Abstract Background The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Per
Externí odkaz:
https://doaj.org/article/9eab7f6ab4204d20b65d07db2cb1d539
Autor:
Célia Nogueira, Lisbeth Silva, Ana Marcão, Carmen Sousa, Helena Fonseca, Hugo Rocha, Teresa Campos, Elisa Leão Teles, Esmeralda Rodrigues, Patrícia Janeiro, Ana Gaspar, Laura Vilarinho
Publikováno v:
Biomedicines, Vol 9, Iss 5, p 507 (2021)
The electron-transfer flavoprotein dehydrogenase gene (ETFDH) encodes the ETF-ubiquinone oxidoreductase (ETF-QO) and has been reported to be the major cause of multiple acyl-CoA dehydrogenase deficiency (MADD). In this study, we present the clinical
Externí odkaz:
https://doaj.org/article/5413a5e5c00446beb3e61b8dcfa00b37
Autor:
Ana Marcão, Celeste Barreto, Luísa Pereira, Luísa Guedes Vaz, José Cavaco, Ana Casimiro, Miguel Félix, Teresa Reis Silva, Telma Barbosa, Cristina Freitas, Sidónia Nunes, Verónica Felício, Lurdes Lopes, Margarida Amaral, Laura Vilarinho
Publikováno v:
International Journal of Neonatal Screening, Vol 4, Iss 3, p 22 (2018)
Newborn screening (NBS) for cystic fibrosis (CF) has been shown to be advantageous for children with CF, and has thus been included in most NBS programs using various algorithms. With this study, we intend to establish the most appropriate algorithm
Externí odkaz:
https://doaj.org/article/05a69e413481484e9a1d6f4b54e174a4
Autor:
Elisa Leão Teles, Carmen Sousa, Helena Fonseca, Ana Maria Minarelli Gaspar, Ana Marcão, Patrícia Janeiro, Laura Vilarinho, Esmeralda Rodrigues, Teresa Campos, Lisbeth Silva, Célia Regina Nogueira, Hugo Rocha
Publikováno v:
Biomedicines, Vol 9, Iss 507, p 507 (2021)
Biomedicines
Biomedicines
The electron-transfer flavoprotein dehydrogenase gene (ETFDH) encodes the ETF-ubiquinone oxidoreductase (ETF-QO) and has been reported to be the major cause of multiple acyl-CoA dehydrogenase deficiency (MADD). In this study, we present the clinical
Autor:
Francisco Silva, Sónia Ramos, Helena Fonseca, Luísa Azevedo, Filipa Ferreira, Raquel Neiva, Carmen Sousa, Ana Marcão, Laura Vilarinho, Paula Garcia, Patrícia Janeiro, Sílvia Sequeira, Esmeralda Martins, António Amorim, Esmeralda Rodrigues, Luísa Diogo, Anabela Bandeira, Hugo Rocha, Ana C. Ferreira, Ana Maria Minarelli Gaspar, Teresa Campos, Célia Carmona, Luísa C. Rodrigues
Publikováno v:
Molecular Genetics & Genomic Medicine
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Background The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ec34ddd023de871a85080df47b2e6bb
https://hdl.handle.net/10400.17/3707
https://hdl.handle.net/10400.17/3707
Autor:
Hugo, Rocha, Ana, Marcão, Carmen, Sousa, Helena, Fonseca, Lurdes, Lopes, Ivone, Carvalho, Laura, Vilarinho
Publikováno v:
Revista espanola de salud publica. 95
The Portuguese Newborn Screening Program is a public health program that started in 1979, screening for PKU, being totally supported by public funds. It's a non-mandatory well implemented program that testes about 99.9% of Portuguese newborns. In the
Autor:
Maria do Carmo Macário, Laura Vilarinho, Helena Pinto, Ana Marcão, Ana Marta Gomes, Rita Magriço, Raquel Neiva, Célia Carmona, Isabel Tavares, Teresa Costa, João Paulo Oliveira, Sónia Ramos, Filipa Ferreira, Daniela Lopes, Inês Leal, David Cordeiro Sousa, Conceição Mota
Publikováno v:
Open Journal of Genetics. :91-100
Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene. Objective: This study summarizes the Portuguese experience in the diagnosis and mana
Autor:
Frédéric B. Piel, Lisa Langabeer, Jeannette Klein, Claudine Lapoumeroulie, Carolina Backman Johansson, Giovanna Russo, Kwaku Ohene-Frempong, Baba Inusa, Rachel Yahyaoui, Catherine Badens, Michael Angastiniotis, José L Marín Soria, Ralph Fingerhut, Charles Turner, Léon Tshilolo, Jacques Elion, Corrina McMahon, Elena Dulín, Ana Marcão, Celeste Bento, Yvonne Daniel, Markus Schmugge, Marina García-Morín, Raffaella Colombatti, Laura Sainati, Marianne de Montalembert, Stephan Lobitz, Patrick Ducoroy, Bichr Allaf, Ute Holtkamp, Duran Canatan, Marelle J. Bouva, John James, Jean-Marc Périni, Donatella Venturelli, Allison Streetly, Elena Cela, Paul Telfer, Claudia Frömmel, Marina Kleanthous, Matthew R.M. Charlton, Laura Vilarinho, Cathy Coppinger, Béatrice Gulbis, Joachim B. Kunz
Publikováno v:
British Journal of Haematology
British journal of haematology, 183 (4
British journal of haematology, 183 (4
Sickle Cell Disease (SCD) is an increasing global health problem and presents significant challenges to European health care systems. Newborn screening (NBS) for SCD enables early initiation of preventive measures and has contributed to a reduction i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abcbc87bf672e09e4efdc017ccaa8189
http://hdl.handle.net/11577/3353238
http://hdl.handle.net/11577/3353238
Autor:
Célia Nogueira, H. Rocha, Helena Fonseca, Carla Valongo, Ana Marcão, Laura Vilarinho, Carmen Sousa
Objective Birth prevalence of Cobalamin (Cbl) C or D defects in Portugal is an estimated 1:85,000, one of the highest worldwide. We compared the genotype/phenotype of patients identified with CblC or CblD before and after the implementation of expand
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d598ed1d200fcbb4a2502f0df95eb685
https://hdl.handle.net/10400.18/4705
https://hdl.handle.net/10400.18/4705