Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency

Journal of Pediatrics

Volumn 158, Issue 6, 2011, Pages 1031-1032

  McGoey, Robin R ^a,b   Marble, Michael ^a,b  

^a LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARNITINE DERIVATIVE; LONG CHAIN ACYL COENZYME A DEHYDROGENASE; TETRADECENOYLCARNITINE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CESAREAN SECTION; DNA SEQUENCE; ENZYME DEFICIENCY; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; LIPID BLOOD LEVEL; MALE; MEDICAL HISTORY; MISSENSE MUTATION; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; CARNITINE; FEMALE; GENOTYPE; HUMANS; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; MITOCHONDRIAL DISEASES; MOTHERS; MUSCULAR DISEASES; NEONATAL SCREENING; PHENOTYPE;

EID: 79956047759     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2011.01.063     Document Type: Article

References (10)

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