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Borsatto, Taciane
46
results:
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Online (46)
Mediatypes
Articles (Online) (8)
OpenAccess-fulltext (38)
Languages
english (18)
portuguese (25)
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1
An adult with cystathionine beta-synthase deficiency, campt..:
Donis, Karina Carvalho
;
Kalil, Marco Antônio Baptista
;
Poswar, Fabiano
...
Genetics and Molecular Biology. 47 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1590/..
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2
Characterization of the 3'UTR of the BTD gene and identific..:
Silva, Gerda Cristal Villalba
;
Borsatto, Taciane
;
Schwartz, Ida Vanessa Doederlein
.
Genetics and Molecular Biology. 45 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1590/..
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3
Hipoventilação relacionada ao sono de origem central secund..:
Silva, Andressa Fernandes
;
Moraes, Carolina Vicentim de
;
Pelissari, Guilherme Andrade
...
Medicina (Ribeirão Preto). 54 (2021) 1 - p. e166390 , 2021
Link:
https://doi.org/10.11606..
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4
Effect of BTD gene variants on in vitro biotinidase activit:
Borsatto, Taciane
;
Sperb-Ludwig, Fernanda
;
Blom, Henk J.
.
Molecular Genetics and Metabolism. 127 (2019) 4 - p. 361-367 , 2019
Link:
https://doi.org/10.1016/..
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5
CBS mutations are good predictors for B6‐responsiveness: A ..:
Poloni, Soraia
;
Sperb‐Ludwig, Fernanda
;
Borsatto, Taciane
...
Molecular Genetics & Genomic Medicine. 6 (2018) 2 - p. 160-170 , 2018
Link:
https://doi.org/10.1002/..
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6
Correction: Biotinidase deficiency: Genotype-biochemical ph..:
Borsatto, Taciane
;
Sperb-Ludwig, Fernanda
;
Lima, Samyra E.
...
PLOS ONE. 12 (2017) 6 - p. e0180463 , 2017
Link:
https://doi.org/10.1371/..
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7
Biotinidase deficiency: Genotype-biochemical phenotype asso..:
Borsatto, Taciane
;
Sperb-Ludwig, Fernanda
;
Lima, Samyra E.
...
PLOS ONE. 12 (2017) 5 - p. e0177503 , 2017
Link:
https://doi.org/10.1371/..
?
8
Biotinidase deficiency: clinical and genetic studies of 38 ..:
Borsatto, Taciane
;
Sperb-Ludwig, Fernanda
;
Pinto, Louise LC
...
BMC Medical Genetics. 15 (2014) 1 - p. , 2014
Link:
https://doi.org/10.1186/..
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9
Characterization of the 3'UTR of the BTD gene and identific..:
Silva, Gerda Cristal Villalba
;
Borsatto, Taciane
;
Schwartz, Ida Vanessa Doederlein
.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8846296/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
10
Variante p.Trp323Ter no Brasil : caracterização clínica e b..:
Silvano, Gabriela Garcia
;
Poloni, Soraia
;
Leão, Emília Katiane Embiruçu de Araújo
...
Clinical and biomedical research. Porto Alegre. , 2021
Link:
http://hdl.handle.net/10..
?
11
Homocistinúria clássica no Brasil : relato de 48 pacientes ..:
Silvano, Gabriela Garcia
;
Poloni, Soraia
;
Sperb, Fernanda
...
Clinical and biomedical research. Porto Alegre. , 2021
Link:
http://hdl.handle.net/10..
?
12
Hipoventilação relacionada ao sono de origem central secund..:
Silva, Andressa Fernandes
;
Moraes, Carolina Vicentim de
;
Pelissari, Guilherme Andrade
...
https://www.revistas.usp.br/rmrp/article/view/166390/174073. , 2021
Link:
https://www.revistas.usp..
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13
Caracterização clínica e bioquímica de pacientes com homoci..:
Silvano, Gabriela Garcia
;
Poloni, Soraia
;
Leão, Emília Katiane Embiruçu de Araújo
...
Clinical and biomedical research. , 2020
Link:
http://hdl.handle.net/10..
?
14
CBS mutations are good predictors for B6-responsiveness : a..:
Sperb, Fernanda
;
Borsatto, Taciane
;
Hoss, Giovana Regina Weber
...
Molecular Genetics & Genomic Medicine. Hoboken, NY. Vol. 6, No. 2 (Mar. 2018), p. 160-170. , 2019
Link:
http://hdl.handle.net/10..
?
15
Diagnosis and management of classica homocystinuria in Braz..:
POLONI, Soraia
;
HOSS, Giovana Regina Weber
;
SPERB-LUDWIG, Fernanda
...
Journal of Inborn Errors of Metabolism & Screening. , 2019
Link:
http://repositorio.ufpa...
1-15