MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency

Journal of Pediatrics

Volumn 143, Issue 3, 2003, Pages 335-342

  Spiekerkoetter, Ute ^a   Sun, Bin ^b   Zytkovicz, Thomas ^b   Wanders, Ronald ^b   Strauss, Arnold W ^b   Wendel, Udo ^b  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; UNCLASSIFIED DRUG; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE;

AGE; ALLELE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIET SUPPLEMENTATION; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; FAMILY; FOLLOW UP; GENE MUTATION; GENETIC SCREENING; HUMAN; INFANT; LIVER DISEASE; MASS SCREENING; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; MYOPATHY; NEWBORN; NEWBORN SCREENING; PHENOTYPE; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY;

EID: 0141615880     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/S0022-3476(03)00292-0     Document Type: Article

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