Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: Performance improvement by monitoring a new ratio

Molecular Genetics and Metabolism

Volumn 113, Issue 4, 2014, Pages 274-277

  Hall, Patricia L ^a   Wittenauer, Angela ^a   Hagar, Arthur ^b  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Georgia Department of Public Health   (United States)

Author keywords

False positive; MCAD deficiency; Medium chain acyl CoA dehydrogenase; Newborn screening; Performance improvement; Very low birth weight

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; BIOLOGICAL MARKER; CARNITINE; OCTANOYLCARNITINE;

ARTICLE; DIETARY INTAKE; DRIED BLOOD SPOT TESTING; FOLLOW UP; HEALTH CARE COST; HUMAN; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; NEWBORN; NEWBORN SCREENING; PREDICTIVE VALUE; VERY LOW BIRTH WEIGHT; ANALOGS AND DERIVATIVES; BLOOD; DEFICIENCY; GENETICS; HETEROZYGOTE; INFANT; LABORATORY DIAGNOSIS; LIPID METABOLISM, INBORN ERRORS; METABOLISM; PROCEDURES; UNITED STATES;

ACYL-COA DEHYDROGENASE; ACYL-COA DEHYDROGENASES; BIOLOGICAL MARKERS; CARNITINE; FALSE POSITIVE REACTIONS; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; INFANT, VERY LOW BIRTH WEIGHT; LIPID METABOLISM, INBORN ERRORS; NEONATAL SCREENING; UNITED STATES;

EID: 84918775472     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.10.007     Document Type: Article

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