Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening

Molecular Genetics and Metabolism

Volumn 103, Issue 1, 2011, Pages 92-95

  Leydiker, K B ^a   Neidich, J A ^b   Lorey, F ^c   Barr, E M ^a   Puckett, R L ^a   Lobo, R M ^b   Abdenur, J E ^a  

^a CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^b QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^c Genetic Disease Screening Program   (United States)

Author keywords

Expanded newborn screening; Maternal; Maternal inborn error of metabolism; MCADD; Medium chain acyl CoA dehydrogenase deficiency; Tandem mass spectrometry

Indexed keywords

ACYLCARNITINE; CARBOXYLIC ACID; CARNITINE;

ARTICLE; CASE REPORT; CHEMICAL ANALYSIS; DIET RESTRICTION; DIET SUPPLEMENTATION; ENZYME DEFECT; FATTY ACID OXIDATION DISORDER; FEMALE; GENETIC COUNSELING; HUMAN; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METABOLIC DISORDER; NEWBORN; NEWBORN SCREENING; PHYSICAL EXAMINATION; PRIORITY JOURNAL;

ACYL-COA DEHYDROGENASE; CARNITINE; FEMALE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MUTATION; NEONATAL SCREENING; PHENOTYPE; TANDEM MASS SPECTROMETRY;

EID: 79955153723     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.01.011     Document Type: Article

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