TY  - JOUR 
AU  - Facultad de Veterinaria
AU  - Borsatto, Taciane
AU  - Sperb-Ludwig, Fernanda
AU  - Lima, Samyra E.
AU  - Carvalho, María R.S.
AU  - De Souza Fonseca, Pablo Augusto
AU  - Camelo, José S.
AU  - Ribeiro, Erlane M.
AU  - De Medeiros, Paula F. V.
AU  - Lourenço, Charles M.
AU  - De Souza, Carolina F. M.
AU  - Boy, Raquel
AU  - Félix, Têmis M.
AU  - Bittar, Camila M.
AU  - Pinto, Louise L. C.
AU  - Neto, Eurico C.
AU  - Blom, Henk J.
AU  - Schwartz, Ida V. D.
AU  - Producción Animal
DA  - 2017
UR  - https://hdl.handle.net/10612/17935
AB  - [EN] The association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always consistent. This study aimed to investigate the genotype-biochemical phenotype...
LA  - eng
PB  - Plos
KW  - Genética
KW  - Biotinidase
KW  - Genotyping
KW  - Mutations
KW  - Human
TI  - Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
DO  - 10.1371/journal.pone.0177503
T2  - PLOS ONE
VL  - 12
M2  - e0177503
ER  -