دانلود مقالات ISI درباره Tyrosinemia Type I + ترجمه فارسی

Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs

Keywords: SUAC; Succinylacetone; NBS; Newborn screening; DBS; Dried blood spot; TYR I; Tyrosinemia type I; MS/MS; Tandem mass spectrometry; HHS; US Department of Health and Human Services; S(D)ACHDNC; US Health and Human Services Secretary's (Discretionary) Advisor

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2014 سفارش ترجمه

Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: Recommendation for expanded newborn screening in Hong Kong

Keywords: Expanded newborn screening; FAH gene; Hong Kong Chinese; Inborn errors of metabolism; Novel mutation; Tyrosinemia type I

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine

Keywords: Newborn screening; Tyrosinemia type I; Succinylacetone; Hydrazine; High-throughput mass spectrometry;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2012 سفارش ترجمه

Improved tandem mass spectrometry (MS/MS) derivatized method for the detection of tyrosinemia type I, amino acids and acylcarnitine disorders using a single extraction process

Keywords: Tandem mass spectrometry; Genetic disease screening; Tyrosinemia type I; Succinylacetone; Newborn screening; Dried blood spot;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2011 سفارش ترجمه

Assessing the DNA methylation status of single cells with the comet assay

Keywords: Comet assay; DNA methylation; HepG2; Cytosine extension assay; Tyrosinemia type I; Succinylacetone

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2010 سفارش ترجمه

Improved MS/MS analysis of succinylacetone extracted from dried blood spots when combined with amino acids and acylcarnitine butyl esters

Keywords: Tandem mass spectrometry; Succinylacetone; Acylcarnitines; Tyrosinemia type I; Dried blood spots; Newborn screening

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2009 سفارش ترجمه

Tyrosinemia type I treated by NTBC: How does AFP predict liver cancer?

Keywords: Tyrosinemia type I; α-fetoprotein; 2-(2-Nitro-4-3 trifluoro-methylbenzoyl)1,3-cyclohexanedione; NTBC; Liver cancer; Heptocellular carcinoma

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2006 سفارش ترجمه

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I

Keywords: Tyrosinemia type I; Fumarylacetoacetate hydrolase deficiency; Succinylacetone; Newborn screening; Tandem mass spectrometry; Dried blood spot

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2006 سفارش ترجمه