دانلود مقالات ISI درباره Mcadd + 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

ویژگی های بیوشیمیایی نوزادان با نقص انتقال دهنده کارنیتین شناسایی شده توسط غربالگری نوزادان در کالیفرنیا

Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California

Keywords: ACMG; American College of Medical Genetics; ARUP; Associated Regional and University Pathologists, Inc.; C0; dried blood spot free carnitine; CHOC Children's; Children's Hospital of Orange County; CTD; carnitine transporter defect; FP; false-positive; GA

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2017 سفارش ترجمه

کمبود زنجیره آکیل-کئوآاد دهیدروژناز

Medium-chain acyl-CoA dehydrogenase deficiency

Keywords: emergency regimen; fatty acid oxidation disorder; hypoglycaemia; MCADD; medium-chain acyl-CoA dehydrogenase deficiency

دانلود رایگان متن کامل مقاله ISI 4 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

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland - Experience and development of a routine program for expanded newborn screening

Keywords: 3-HMGD; 3-hydroxy-3-methyl-glutaryl-CoA lyase deficiency (OMIM ID: 246450); 3-MCCD; 3-methylcrotonyl-CoA-dehydrogenase deficiency (OMIM IDs: 210200, 210210); 3-MGCHD; 3-methylglutaconyl-CoA hydratase deficiency (OMIM ID: 250950); ACMG; American College of

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2012 سفارش ترجمه

Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening

Keywords: Medium-chain acyl-CoA dehydrogenase deficiency; Expanded newborn screening; Maternal; Tandem mass spectrometry; MCADD; Maternal inborn error of metabolism

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2011 سفارش ترجمه

Medium-chain acyl-CoA dehydrogenase deficiency – a review

Keywords: emergency regimen; fatty acid oxidation disorder; hypoglycaemia; MCADD; medium-chain acyl-CoA dehydrogenase deficiency

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2011 سفارش ترجمه

Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme

Keywords: BD; biotinidase deficiency; CIT 1; type I citrullinaemia; FFA; free fatty acid; GA-1; type I glutaric aciduria; GALE; classical galactosaemia; GALK; galactokinase deficiency; HPA; hyperphenylalaninaemia; IEM; inborn errors of metabolism; IQ; Intellectual

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2011 سفارش ترجمه

Data mining methods for classification of Medium-Chain Acyl-CoA dehydrogenase deficiency (MCADD) using non-derivatized tandem MS neonatal screening data

Keywords: Data mining; Rare diseases; MCADD; Medium-Chain Acyl-CoA dehydrogenase; Logistic regression;

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

Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening

Keywords: Medium chain acyl-coenzyme A dehydrogenase deficiency; MCADD; Fatty acid oxidation disorder; Newborn screening; Sudden death

دانلود رایگان متن کامل مقاله ISI 7 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

Understanding Newborn Screening System Issues With Emphasis on Cystic Fibrosis Screening

Keywords: AAP; American Academy of Pediatrics; ACHDGDNC; Advisory Committee on Heritable Diseases and Genetic Disorders in Newborns and Children; ACMG; American College of Medical Genetics; CF; cystic fibrosis; DNA; deoxyribonucleic acid; HHS; US Department of Heal

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2005 سفارش ترجمه