Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients

BACKGROUND: Biotinidase deficiency (BD) is an inborn error of metabolism in which some genetic variants correlate with the level of enzyme activity. Biotinidase activity, however, may be artifactually low due to enzyme lability, premature birth, and jaundice; this hinders both phenotypic classificat...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Borsatto, Taciane, Sperb-Ludwig, Fernanda, Pinto, Louise LC, De Luca, Gisele R, Carvalho, Francisca L, De Souza, Carolina FM, De Medeiros, Paula FV, Lourenço, Charles M, Filho, Reinaldo LO, Neto, Eurico C, Bernardi, Pricila, Leistner-Segal, Sandra, Schwartz, Ida VD
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4236587/
https://ncbi.nlm.nih.gov/pubmed/25174816
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-014-0096-3
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