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Ludwig, Fernanda Sperb
115
results:
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Online (115)
Mediatypes
Articles (Online) (53)
OpenAccess-fulltext (62)
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english (87)
portuguese (18)
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1
PHENYLKETONURIA'S GENETIC LANDSCAPE IN BRAZIL:
Tresbach, Rafael Hencke
;
Ludwig, Fernanda Sperb
;
Vieira, Marta Wey
...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107478 , 2023
Link:
https://doi.org/10.1016/..
?
2
Genetic approaches for diagnosis of two Brazilian patients ..:
Schwartz, Ida Vanessa Doederlein
;
Ludwig, Nataniel Floriano
;
Random, Devora
.
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S133-S134 , 2019
Link:
https://doi.org/10.1016/..
?
3
Comprometimento ósseo na doença de Gaucher: avaliação por m..:
Bomfiglio, Isabella
;
Ludwig, Fernanda Sperb
http://hdl.handle.net/10183/259570. , 2022
Link:
http://hdl.handle.net/10..
?
4
Abordagem inovadora no tratamento de glicogenoses hepáticas..:
Bomfiglio, Isabella
;
Ludwig, Fernanda Sperb
http://hdl.handle.net/10183/242492. , 2021
Link:
http://hdl.handle.net/10..
?
5
Análise das variantes não patogênicas do gene GNPTAB na pop..:
Soares, Malu Bettio
;
Ludwig, Fernanda Sperb
;
Mendes, Vitor Bertolozzi
.
Clinical and biomedical research. Porto Alegre. , 2016
Link:
http://hdl.handle.net/10..
?
6
Análise do gene nagpa em pacientes com Mucolipidoses II e I..:
Soares, Malu Bettio
;
Ludwig, Fernanda Sperb
;
Ludwig, Nataniel Floriano
.
Clinical and biomedical research. Porto Alegre. , 2016
Link:
http://hdl.handle.net/10..
?
7
Nova atualização das informações moleculares das Mucolipido..:
Ludwig, Nataniel Floriano
;
Velho, Renata Voltolini
;
Ludwig, Fernanda Sperb
..
Clinical and biomedical research. Porto Alegre. , 2016
Link:
http://hdl.handle.net/10..
?
8
New approaches to the treatment of orphan genetic disorders..:
Velho, Renata Voltolini
;
Ludwig, Fernanda Sperb
;
Schwartz, Ida Vanessa Doederlein
Anais da Academia Brasileira de Ciências, Rio de Janeiro, RJ. , 2015
Link:
http://hdl.handle.net/10..
?
9
Pacientes brasileiros com deficiência de biotinidase aprese..:
Lima, Samyra Espindola
;
Borsatto, Taciane
;
Ludwig, Fernanda Sperb
...
Clinical and biomedical research. Porto Alegre. , 2015
Link:
http://hdl.handle.net/10..
?
10
Mucolipidose II e III alfa/beta no Brasil : atualizações na..:
Ludwig, Nataniel Floriano
;
Ludwig, Fernanda Sperb
;
Matte, Ursula da Silveira
.
Clinical and biomedical research. Porto Alegre. , 2015
Link:
http://hdl.handle.net/10..
?
11
Análise de mutações não patogênicas do gene GNPTAB na popul..:
Mendes, Vitor Bertolozzi
;
Bettio, Malu Soares
;
Ludwig, Fernanda Sperb
.
Clinical and biomedical research. Porto Alegre. , 2015
Link:
http://hdl.handle.net/10..
?
12
Gangliosidose GM1 : aspectos clínicos e moleculares da popu..:
Ludwig, Fernanda Sperb
, 2012
Link:
http://hdl.handle.net/10..
?
13
Potential use of other starch sources in the treatment of g..:
Monteiro, Vaneisse
;
Colonetti, Karina
;
Pagno, Carlos Henrique
...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
14
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/..
?
15
In vitro substrate reduction, chaperone and immunomodulatio..:
Sperb-Ludwig, Fernanda
;
Ludwig, Nataniel Floriano
;
Rizowy, Gustavo Mottin
..
Genetics and Molecular Biology. 46 (2023) 3 suppl 1 - p. , 2023
Link:
https://doi.org/10.1590/..
1-15