Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays
Bender, Fernanda, Burin, Maira G., Tirelli, Kristiane M., Medeiros, Fernanda, Bitencourt, Fernanda Hendges de, Civallero, Gabriel, Kubaski, Francyne, Bravo, Heydy, Daher, Antoine, Carnier, Vanessa, Franco, José F. S., Giugliani, Roberto
Published in Genetics and molecular biology (01.01.2020)
Published in Genetics and molecular biology (01.01.2020)
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Journal Article
Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods
Sebastião, Fernanda Medeiros, Burin, Maira Graeff, Civallero, Gabriel, Tirelli, Kristiane Michelin, Sitta, Angela, Coelho, Daniella de Moura, Vargas, Carmen Regla, Wajner, Moacir, Giugliani, Roberto, Bitencourt, Fernanda Hendges de, Schwartz, Ida Vanessa Doederlein
Published in Journal of inborn errors of metabolism and screening (2020)
Published in Journal of inborn errors of metabolism and screening (2020)
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Journal Article
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center
Magalhães, Ana Paula Pereira Scholz de, Burin, Maira Graeff, Souza, Carolina Fischinger Moura de, de Bitencourt, Fernanda Hendges, Sebastião, Fernanda Medeiros, Silva, Thiago Oliveira, Vairo, Filippo Pinto e, Schwartz, Ida Vanessa Doederlein
Published in Jornal de pediatria (01.11.2020)
Published in Jornal de pediatria (01.11.2020)
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Journal Article
Medium-chain acyl-CoA dehydrogenase deficiency: prevalence of ACADM pathogenic variants c.985A>G and c.199T>C in a healthy population in Rio Grande do Sul, Brazil
dos Santos, Mariana Lopes, Randon, Dévora Natalia, de Bitencourt, Fernanda Hendges, Sperb-Ludwig, Fernanda, Vianna, Fernanda Sales Luiz, Vargas, Carmen Regla, Sitta, Angela, Schwartz, Ida Vanessa Doederlein
Published in Reproductive and developmental medicine (01.06.2022)
Published in Reproductive and developmental medicine (01.06.2022)
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Journal Article
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian center
Magalhães, Ana Paula Pereira Scholz de, Burin, Maira Graeff, Souza, Carolina Fischinger Moura de, Bitencourt, Fernanda Hendges de, Sebastião, Fernanda Medeiros, Silva, Thiago Oliveira, Vairo, Filippo Pinto e, Schwartz, Ida Vanessa Doederlein
Published in Jornal de Pediatria (Versão em Português) (01.11.2020)
Published in Jornal de Pediatria (Versão em Português) (01.11.2020)
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Journal Article
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing
Tresbach, Rafael Hencke, Sperb-Ludwig, Fernanda, Ligabue-Braun, Rodrigo, Bitencourt, Fernanda Hendges de, Tonon, Tássia, Souza, Carolina Fischinger Moura de, Poswar, Fabiano de Oliveira, Leite, Maria Efigênia de Queiroz, Amorim, Tatiana, Porta, Gilda, Seda Neto, João, Miura, Irene Kazumi, Steiner, Carlos Eduardo, Martins, Ana Maria, Pessoa, André Luiz Santos, Ribeiro, Erlane Marques, Schwartz, Ida Vanessa Doederlein
Published in Molecular genetics and metabolism (01.09.2024)
Published in Molecular genetics and metabolism (01.09.2024)
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Journal Article
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian center
Magalhães, Ana Paula Pereira Scholz de, Burin, Maira Graeff, Souza, Carolina Fischinger Moura de, Bitencourt, Fernanda Hendges de, Sebastião, Fernanda Medeiros, Silva, Thiago Oliveira, Vairo, Filippo Pinto e, Schwartz, Ida Vanessa Doederlein
Published in Jornal de Pediatria (Versão em Português) (01.11.2020)
Published in Jornal de Pediatria (Versão em Português) (01.11.2020)
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Journal Article
Medical Costs Related to Enzyme Replacement Therapy for Mucopolysaccharidosis Types I, II, and VI in Brazil: A Multicenter Study
Bitencourt, Fernanda Hendges de, Vieira, Taiane Alves, Steiner, Carlos Eduardo, Neto, Jordão Correa, Boy, Raquel, Schwartz, Ida Vanessa Doederlein
Published in Value in health regional issues (01.12.2015)
Published in Value in health regional issues (01.12.2015)
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Journal Article
General overview of urea cycle disorders (UCDs) in Brazil
Schwartz, Ida Vanessa Doederlein, dos Santos, Mariana Lopes, Fink, Isabela Alicia, de Bitencourt, Fernanda Fernanda Hendges, Sperb-Ludwig, Fernanda, Refosco, Lilia Farret, de Souza, Carolina Fischinger Moura, Poswar, Fabiano Oliveira, Vieira, Marta Wey, Moretzsohn, Monica, Curiati, Marco Antonio, Santos, Mara Lúcia Schmitz Ferreira, do Valle, Daniel Almeida, Menezes, Ana Cecília, da Silva Baptista Arpini, Luana, Heredia, Romina Soledad, da Silva, Luiz Carlos Santana, de Camargo Pinto, Louise Lapagesse, de Rosso Giuliani, Liane, Adjuto, Giselle Maria Araujo Felix, de Distúrbios do Ciclo da Uréia, Grupo Brasileiro
Published in Molecular genetics and metabolism (01.04.2024)
Published in Molecular genetics and metabolism (01.04.2024)
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Journal Article
A terapia de reposição enzimática pode mudar a frequência de intervenções médicas na mucopolissacaridose tipo I? Um estudo retrospectivo e exploratório [Can enzyme replacement therapy change the frequency of medical interventions in mucopolysacchari...]
Fernanda Hendges de Bitencourt, Mayna Yaçanã Borges de Avila, Monica Vinhas de Souza, Taiane Alves Vieira, Ida Vanessa Doederlein Schwartz
Published in Clinical and Biomedical Research (01.04.2014)
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Published in Clinical and Biomedical Research (01.04.2014)
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