The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots

Journal of Inherited Metabolic Disease

Volumn 28, Issue 4, 2005, Pages 557-562

  van Maldegem, B T ^a   Waterham, H R ^a   Duran, M ^a   van der Vlies, M ^a   van Woerden, C S ^a   Bobu, L L ^a   Wanders, R J A ^a   Wijburg, F A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BUTYRYL COENZYME A DEHYDROGENASE; CARNITINE; COMPLEMENT COMPONENT C4;

ARTICLE; BLOOD ANALYSIS; BUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; CLINICAL FEATURE; CORRELATION ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; ENZYME DEFICIENCY; FATTY ACID OXIDATION; GENE FREQUENCY; GENETIC DISORDER; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERLIPIDEMIA; INFANT; LIPID BLOOD LEVEL; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NETHERLANDS; NEWBORN SCREENING; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; POPULATION GENETICS;

ALLELES; BUTYRYL-COA DEHYDROGENASE; CARNITINE; FATTY ACIDS; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; NEONATAL SCREENING; OXYGEN; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TIME FACTORS; VARIATION (GENETICS);

EID: 19944397161     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10545-005-0557-0     Document Type: Article

References (15)

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