Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency

Molecular Genetics and Metabolism

Volumn 108, Issue 1, 2013, Pages 51-55

  McCandless, Shawn E ^a,b   Chandrasekar, Ram ^c   Linard, Sharon ^c   Kikano, Sandra ^a   Rice, Lorrie ^a  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CASE WESTERN RESERVE UNIVERSITY   (United States)

^c OHIO DEPARTMENT OF HEALTH   (United States)

Author keywords

Dried blood spots; Fatty acid oxidation disorders; Medium chain acyl CoA dehydrogenase deficiency; Newborn screening

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

5' UNTRANSLATED REGION; ARTICLE; BASE PAIRING; CLINICAL ARTICLE; DNA EXTRACTION; DNA SCREENING; DRIED BLOOD SPOT TESTING; EXON; FALSE POSITIVE RESULT; GENE MUTATION; GENE SEQUENCE; HUMAN; INFANT; INTRON; MALE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PREMATURITY; PRIORITY JOURNAL; UNITED STATES;

ACYL-COA DEHYDROGENASE; FALSE POSITIVE REACTIONS; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; NEONATAL SCREENING;

EID: 84871722800     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.10.016     Document Type: Article

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