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Genetics and molecular biology, 2022, Vol.45 (1), p.e20200432-e20200432
2022
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Genetics and molecular biology, 2024-01, Vol.47 (1), p.e20220335-e20220335
2024
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Medicina (Sao Paulo. 197?), 2021-07, Vol.54 (1), p.e166390
2021
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Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
2017
Link zum Volltext
Journal of inborn errors of metabolism and screening, 2018-08, Vol.6
- Poloni Soraia
- Hoss, Giovana W
- Sperb-Ludwig Fernanda
- Borsatto Taciane
- Doriqui Maria Juliana R
- KEA, Leão Emília
- Boa-Sorte Ney
- Lourenço, Charles M
- Kim, Chong A
- de Souza Carolina F M
- Rocha Helio
- Ribeiro, Marcia
- Steiner, Carlos E
- Moreno, Carolina A
- Bernardi Pricila
- Valadares Eugenia
- Artigalas Osvaldo
- Carvalho Gerson
- Wanderley Hector Y C
- D’Almeida Vânia
- Santana-da-Silva, Luiz C
- Blom, Henk J
- Schwartz Ida V D
2018
Link zum Volltext
Molecular genetics and metabolism, 2019-08, Vol.127 (4), p.361-367
2019
Link zum Volltext
PloS one, 2017-05, Vol.12 (5), p.e0177503-e0177503
- Borsatto, Taciane
- Sperb-Ludwig, Fernanda
- Lima, Samyra E
- S Carvalho, Maria R
- S Fonseca, Pablo A
- S Camelo, Jr, José
- M Ribeiro, Erlane
- F V de Medeiros, Paula
- M Lourenço, Charles
- F M de Souza, Carolina
- Boy, Raquel
- Félix, Têmis M
- M Bittar, Camila
- L C Pinto, Louise
- C Neto, Eurico
- J Blom, Henk
- D Schwartz, Ida V
- Goldberg, Anna Carla
2017
Link zum Volltext
Molecular genetics & genomic medicine, 2018-03, Vol.6 (2), p.160-170
- Poloni, Soraia
- Sperb‐Ludwig, Fernanda
- Borsatto, Taciane
- Weber Hoss, Giovana
- Doriqui, Maria Juliana R.
- Embiruçu, Emília K.
- Boa‐Sorte, Ney
- Marques, Charles
- Kim, Chong A.
- Fischinger Moura de Souza, Carolina
- Rocha, Helio
- Ribeiro, Marcia
- Steiner, Carlos E.
- Moreno, Carolina A.
- Bernardi, Pricila
- Valadares, Eugenia
- Artigalas, Osvaldo
- Carvalho, Gerson
- Wanderley, Hector Y. C.
- Kugele, Johanna
- Walter, Melanie
- Gallego‐Villar, Lorena
- Blom, Henk J.
- Schwartz, Ida Vanessa D.
2018
Link zum Volltext
BMC medical genetics, 2014-09, Vol.15 (1), p.96-96, Article 96
2014
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Journal of inborn errors of metabolism and screening, 2018-08, Vol.6, p.232640981878890
- Poloni, Soraia
- Hoss, Giovana W.
- Sperb-Ludwig, Fernanda
- Borsatto, Taciane
- Doriqui, Maria Juliana R.
- Leão, Emília K.E.A
- Boa-Sorte, Ney
- Lourenço, Charles M.
- Kim, Chong A.
- de Souza, Carolina F. M.
- Rocha, Helio
- Ribeiro, Marcia
- Steiner, Carlos E.
- Moreno, Carolina A.
- Bernardi, Pricila
- Valadares, Eugenia
- Artigalas, Osvaldo
- Carvalho, Gerson
- Wanderley, Hector Y. C.
- D’Almeida, Vânia
- Santana-da-Silva, Luiz C.
- Blom, Henk J.
- Schwartz, Ida V. D.
2018
Link zum Volltext
Journal of inborn errors of metabolism and screening, 2018, Vol.6
- Poloni, Soraia
- Hoss, Giovana W.
- Sperb-Ludwig, Fernanda
- Borsatto, Taciane
- Doriqui, Maria Juliana R.
- Leão, Emília K.E.A
- Boa-Sorte, Ney
- Lourenço, Charles M.
- Kim, Chong A.
- Souza, Carolina F. M. de
- Rocha, Helio
- Ribeiro, Marcia
- Steiner, Carlos E.
- Moreno, Carolina A.
- Bernardi, Pricila
- Valadares, Eugenia
- Artigalas, Osvaldo
- Carvalho, Gerson
- Wanderley, Hector Y. C.
- D’Almeida, Vânia
- Santana-da-Silva, Luiz C.
- Blom, Henk J.
- Schwartz, Ida V. D.
2018
Link zum Volltext
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- Genetics & Heredity
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- Humans
- Life Sciences & Biomedicine
- Biotinidase
- Biotinidase - Genetics
- Biotinidase Deficiency - Genetics
- Exons
- Female
- Male
- Mutation
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- Adolescent
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- Biochemistry
- Biochemistry & Molecular Biology
- Biotinidase - Metabolism
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- Biotinidase Deficiency - Pathology
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