Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: A global perspective

Journal of Inherited Metabolic Disease

Volumn 29, Issue 2-3, 2006, Pages 370-377

  Rhead, William J ^a  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE DERIVATIVE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; OCTANOYLCARNITINE; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; ENZYME DEFICIENCY; GENE FREQUENCY; GENETIC RISK; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; INCIDENCE; MAJOR CLINICAL STUDY; MASS SCREENING; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MORBIDITY; MORTALITY; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING; POPULATION RESEARCH; RISK ASSESSMENT; RISK REDUCTION; TANDEM MASS SPECTROMETRY;

ACYL-COA DEHYDROGENASE; CARNITINE; GENETIC SCREENING; GENETIC TESTING; GENOTYPE; HUMANS; INCIDENCE; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MUTATION; NEONATAL SCREENING; PREDICTIVE VALUE OF TESTS; QUESTIONNAIRES; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; TIME FACTORS; WORLD HEALTH;

EID: 33745098087     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0292-1     Document Type: Article

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