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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236587/
https://www.ncbi.nlm.nih.gov/pubmed/25174816
http://dx.doi.org/10.1186/s12881-014-0096-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236587/
https://www.ncbi.nlm.nih.gov/pubmed/25174816
http://dx.doi.org/10.1186/s12881-014-0096-3

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