Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

INTRODUCTION: 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 association in patients with low biotinidase activ...

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Detalles Bibliográficos
Autores principales: Borsatto, Taciane, Sperb-Ludwig, Fernanda, Lima, Samyra E., S. Carvalho, Maria R., S. Fonseca, Pablo A., S. Camelo, 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5428951/
https://www.ncbi.nlm.nih.gov/pubmed/28498829
http://dx.doi.org/10.1371/journal.pone.0177503

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5428951/
https://www.ncbi.nlm.nih.gov/pubmed/28498829
http://dx.doi.org/10.1371/journal.pone.0177503

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