دانلود مقالات ISI درباره Medium Chain Acyl-Coa Dehydrogenase Deficiency + ترجمه فارسی

تصمیم گیری در مورد تنظیم خانواده برای والدین کودکان با شرایط ژنتیکی نادر: یک مرور کلی

Family planning decisions for parents of children with a rare genetic condition: A scoping review

Keywords: CF; cystic fibrosis; MCADD; medium chain acyl-CoA dehydrogenase deficiency; NBS; newborn bloodspot screening; PIHM; pre-implantation genetic diagnosis; PND; pre-natal diagnosis; SCD; sickle cell disease; SMA; spinal muscular atrophy; Scoping review; Reces

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2017 سفارش ترجمه

غربالگری نوزادان برای خطاهای متولد متابولیسم

Newborn screening for inborn errors of metabolism

Keywords: glutaric aciduria type I; homocystinuria; isovaleric aciduria; maple syrup urine disease; medium chain acyl-CoA dehydrogenase deficiency; newborn screening; phenylketonuria; tandem mass spectrometry

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry

Keywords: Newborn screening; Inborn errors of metabolism; Tandem mass spectrometry; 2MBG; 2-methylbutyrylglycine; 3MCC; 3-methylcrotonyl-CoA carboxylase deficiency; 3MCG; 3-methylcrotonylglycine; AG; acetylglycine; BG; butyrylglycine; BKTD; beta ketothiolase defici

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2018 سفارش ترجمه

Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence

Keywords: Screening; Sensitivity; Medium chain acyl-CoA dehydrogenase deficiency; Tandem mass spectrometry; Inborn errors of metabolism; MCADD;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2014 سفارش ترجمه

Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8 year journey from pilot to current program

Keywords: DBS; dried blood spot; ESI/MS/MS; electrospray ionization-tandem mass spectrometry; LC/MS/MS; liquid chromatography-tandem mass spectrometry; FAOD; fatty acid oxidation disorder; FPR; false positive rate; IEM; Inborn Errors of Metabolism; NBS; newborn scr

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

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin

Keywords: SBCADD; short/branched chain acyl-CoA dehydrogenase deficiency; 2-MBCD; 2-methylbutyryl CoA dehydrogenase deficiency; C2; acetylcarnitine; C3; propionylcarnitine; C5; 2-methylbutyrylcarnitine or isovalerylcarnitine; IVA; isovaleric acidemia; MS/MS; tandem

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

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

Keywords: Fatty acid oxidation defect; Medium chain acyl-CoA dehydrogenase deficiency; Octanoylcarnitine; Newborn screening; Outcome;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2010 سفارش ترجمه

Newborn screening for metabolic disorders

Keywords: FAOD; Fatty acid oxidation disorders; GA-I; Glutaric acidemia type I; GALT; Galactose-1-phosphate uridyltransferase; IVA; Isovaleric acidemia; MCADD; Medium chain acyl-CoA dehydrogenase deficiency; 3-MCCD; 3-Methylcrotonyl-CoA carboxylase deficiency; MS/M

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2006 سفارش ترجمه