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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Detaylı Bibliyografya
Yayımlandı:BMC Med Genet
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2014
Konular:
Research Article
Online Erişim: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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