Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential

Tyrosinemia type I is a genetic disorder characterized by accumulation in the blood and urine of the toxic metabolite succinylacetone (SUAC), not detectable in healthy samples. In many countries, newborns are screened for tyrosinemia type I using tyrosine as a primary marker. Unfortunately, tyrosine...

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Hlavní autoři: la Marca, Giancarlo, Malvagia, Sabrina, Pasquini, Elisabetta, Cavicchi, Catia, Morrone, Amelia, Ciani, Federica, Funghini, Silvia, Villanelli, Fabio, Zammarchi, Enrico, Guerrini, Renzo
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509819/
https://ncbi.nlm.nih.gov/pubmed/23430836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_24
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