Validation of MCADD newborn screening

Clinical Genetics

Volumn 76, Issue 2, 2009, Pages 179-187

  Maier, E M ^a   Pongratz, J ^a   Muntau, A C ^a   Liebl, B ^b   Nennstiel Ratzel, U ^b   Busch, U ^b   Fingerhut, R ^c   Olgemoller B ^c   Roscher, A A ^a   Roschinger W ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b Public Health Newborn Screening Center of the State of Bavaria   (Germany)

^c Laboratory Becker   (Germany)

Author keywords

Acylcarnitine patterns; Carrier detection; Genotyping; Medium chain acyl CoA dehydrogenase deficiency; Mild biochemical phenotypes; Newborn screening; Population heterogeneity

Indexed keywords

ACYLCARNITINE; GENOMIC DNA; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; CARNITINE; DRUG DERIVATIVE; OCTANOYLCARNITINE;

ARTICLE; BIOCHEMISTRY; CASE CONTROL STUDY; CONTROLLED STUDY; ENZYME DEFICIENCY; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FOLLOW UP; GENE MUTATION; GENETIC ALGORITHM; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; RETROSPECTIVE STUDY; VALIDATION PROCESS; BLOOD; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; GENETICS; HETEROZYGOTE; MUTATION; VALIDATION STUDY;

CARNITINE; CASE-CONTROL STUDIES; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MUTATION; NEONATAL SCREENING;

EID: 70349980694     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01217.x     Document Type: Article

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