Differences between acylcarnitine profiles in plasma and bloodspots

Molecular Genetics and Metabolism

Volumn 110, Issue 1-2, 2013, Pages 116-121

  de Sain van der Velden, Monique G M ^a   Diekman, Eugene F ^a   Jans, Judith J ^a   van der Ham, Maria ^a   Prinsen, Berthil H C M T ^a   Visser, Gepke ^a   Verhoeven Duif, Nanda M ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Acylcarnitines; Dried blood spot; Fatty acid oxidation disorders; Organic acidurias; Ratios

Indexed keywords

ACYLCARNITINE; CARNITINE PALMITOYLTRANSFERASE 2; CARNITINE PALMITOYLTRANSFERASE I; UNCLASSIFIED DRUG; CARNITINE; CARNITINE PALMITOYLTRANSFERASE;

ARTICLE; BLOOD SAMPLING; CARNITINE PALMITOYLTRANSFERASE 1 DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; CLINICAL TRIAL; CONTROLLED STUDY; DIAGNOSTIC VALUE; DRIED BLOOD SPOT TESTING; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INBORN ERROR OF METABOLISM; MASS SPECTROMETRY; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; ANALOGS AND DERIVATIVES; BLOOD; DEFICIENCY; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; GENETICS; HYPOGLYCEMIA; METABOLISM, INBORN ERRORS; PATHOLOGY; PREDICTIVE VALUE;

CARNITINE; CARNITINE O-PALMITOYLTRANSFERASE; DRIED BLOOD SPOT TESTING; HUMANS; HYPOGLYCEMIA; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; PREDICTIVE VALUE OF TESTS;

EID: 84882816658     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.04.008     Document Type: Article

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