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Bitencourt, Fernanda Hendges de
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1

General overview of urea cycle disorders (UCDs) in Brazil:

Schwartz, Ida Vanessa Doederlein ; dos Santos, Mariana Lopes ; Fink, Isabela Alicia...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108217 , 2024
Link: https://doi.org/10.1016/..
 
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2

Medium-chain acyl-CoA dehydrogenase deficiency: prevalence ..:

dos Santos, Mariana Lopes ; Randon, Dévora Natalia ; de Bitencourt, Fernanda Hendges...
Reproductive and Developmental Medicine.  6 (2022)  2 - p. 92-97 , 2022
Link: https://doi.org/10.1097/..
 
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3

Transferrin isoelectric focusing for the investigation of c..:

Magalhães, Ana Paula Pereira Scholz de ; Burin, Maira Graeff ; Souza, Carolina Fischinger Moura de...
Jornal de Pediatria.  96 (2020)  6 - p. 710-716 , 2020
Link: https://doi.org/10.1016/..
 
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4

Newborn screening for lysosomal disorders in Brazil: A pilo..:

Bender, Fernanda ; Burin, Maira G. ; Tirelli, Kristiane M....
Genetics and Molecular Biology.  43 (2020)  2 - p. , 2020
Link: https://doi.org/10.1590/..
 
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5

Transferrin isoelectric focusing for the investigation of c..:

Magalhães, Ana Paula Pereira Scholz de ; Burin, Maira Graeff ; Souza, Carolina Fischinger Moura de...
Jornal de Pediatria (Versão em Português).  96 (2020)  6 - p. 710-716 , 2020
Link: https://doi.org/10.1016/..
 
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6

Monitoring of Phenylalanine Levels in Patients with Phenylk..:

Sebastião, Fernanda Medeiros ; Burin, Maira Graeff ; Civallero, Gabriel...
Journal of Inborn Errors of Metabolism and Screening.  8 (2020)  - p. , 2020
Link: https://doi.org/10.1590/..
 
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7

Medical Costs Related to Enzyme Replacement Therapy for Muc..:

Bitencourt, Fernanda Hendges de ; Vieira, Taiane Alves ; Steiner, Carlos Eduardo...
Value in Health Regional Issues.  8 (2015)  - p. 99-106 , 2015
Link: https://doi.org/10.1016/..
 
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8

Triagem neonatal expandida por espectrometria de massas em ..:

Bitencourt, Fernanda Hendges de ; Castro, Simone Martins de ; Giugliani, Roberto...
Clinical and biomedical research. Porto Alegre.  , 2021
Link: http://hdl.handle.net/10..
 
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9

Investigation of a complex phenotype involving craniosynost..:

Medeiros, Leonardo Simão ; Oliveira, Bibiana Mello de ; Silva, Thiago Oliveira...
Clinical and biomedical research. Porto Alegre.  , 2021
Link: http://hdl.handle.net/10..
 
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10

Prevalência elevada da variante patogênica c.554-1G>T (FAH)..:

Silva, João Lucas de Souza e ; Santos, Mariana Lopes dos ; Randon, Dévora Natalia...
Clinical and biomedical research. Porto Alegre.  , 2021
Link: http://hdl.handle.net/10..
 
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11

Medium-chain acyl-CoA dehydrogenase deficiency: prevalence ..:

Santos, Mariana Lopes dos ; Randon, Dévora Natalia ; Bitencourt, Fernanda Hendges de...
Clinical and biomedical research. Porto Alegre.  , 2020
Link: http://hdl.handle.net/10..
 
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12

Investigação da prevalência da variante patogênica c.1168G>..:

Silva, Camila Matuella Figueira da ; Randon, Dévora Natalia ; Bitencourt, Fernanda Hendges de...
Clinical and biomedical research. Porto Alegre.  , 2020
Link: http://hdl.handle.net/10..
 
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13

Monitoring of phenylalanine levels in patients with phenylk..:

Sebastião, Fernanda Medeiros ; Burin, Maira Graeff ; Civallero, Gabriel Eduardo Santiago...
Journal of inborn errors of metabolism & screening. Porto Alegre. Vol. 8 (2020), e20190011, 9 p..  , 2020
Link: http://hdl.handle.net/10..
 
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14

Newborn screening for lysosomal disorders in Brazil : a pil..:

Bender, Fernanda ; Burin, Maira Graeff ; Medeiros, Fernanda...
Genetics and molecular biology. Ribeirão Preto. Vol. 43, n. 2 (2020), e20180334, 6 p..  , 2020
Link: http://hdl.handle.net/10..
 
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15

Transferrin isoelectric focusing for the investigation of c..:

Magalhães, Ana Paula Pereira Scholz de ; Burin, Maira Graeff ; Souza, Carolina Fischinger Moura de...
10.1016/j.jped.2019.05.008.  , 2020
Link: http://www.scielo.br/sci..
 
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