Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation

Journal of Inherited Metabolic Disease

Volumn 28, Issue 4, 2005, Pages 551-556

  Blois, B ^a   Riddell, C ^b,c   Dooley, K ^b,c   Dyack, Sarah ^b,c  

^a ACADIA UNIVERSITY   (Canada)

^b IWK HEALTH CENTRE   (Canada)

^c DALHOUSIE UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; COMPLEMENT COMPONENT C8; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; ACYL COENZYME A DEHYDROGENASE; CARNITINE; DRUG DERIVATIVE; FATTY ACID; OXYGEN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BASE PAIRING; BLOOD ANALYSIS; BRAIN INJURY; CANADA; CLINICAL FEATURE; COMA; DEATH; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; ENZYME DEFICIENCY; FATTY ACID OXIDATION; GENE FREQUENCY; GENETIC DISORDER; HETEROZYGOSITY; HUMAN; HYPOGLYCEMIA; LETHARGY; LIPID BLOOD LEVEL; MAJOR CLINICAL STUDY; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING; NUCLEIC ACID BASE SUBSTITUTION; OXIDATIVE STRESS; POPULATION GENETICS; TANDEM MASS SPECTROMETRY; ALLELE; BLOOD; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; ELECTROSPRAY MASS SPECTROMETRY; GENETICS; HETEROZYGOTE; MASS SPECTROMETRY; METABOLISM; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE;

ACYL-COA DEHYDROGENASE; ALLELES; CARNITINE; DNA MUTATIONAL ANALYSIS; FATTY ACIDS; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MASS SPECTROMETRY; MUTATION; NEONATAL SCREENING; OXYGEN; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION;

EID: 19944380171     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10545-005-0551-6     Document Type: Article

References (9)

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