Keywords: Newborn screening; Very-long chain acyl-CoA dehydrogenase deficiency; False positive; Clinical outcome research; VLCADD;
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States
Keywords: VLCAD; Inborn error of metabolism; Fatty acid oxidation; Newborn screening; ACADVL; VLCADD; NBS; V283A; V243A
Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8Â 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
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
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
Medium-chain triglycerides impair lipid metabolism and induce hepatic steatosis in very long-chain acyl-CoA dehydrogenase (VLCAD)-deficient mice
Keywords: VLCADD; very-long-chain acyl-CoA dehydrogenase deficiency; VLCAD KO; very-long-chain acyl-CoA dehydrogenase knock-out; WT; wild type; LCT; long-chain triglyceride; MCT; medium-chain triglyceride; ACC-1α; acyl-CoA carboxylase; FASN; fatty acid synthase; 1
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