Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: Findings from screening approximately 1.1 million newborn infants

Journal of Medical Screening

Volumn 15, Issue 3, 2008, Pages 112-117

  Khalid, J M ^a   Oerton, J ^a   Cortina Borja, M ^a   Andresen, B S ^b   Besley, G ^c   Dalton, R N ^d   Downing, M ^e   Green, A ^f   Henderson, M ^g   Leonard, J ^a   Dezateux, C ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b AARHUS UNIVERSITY   (Denmark)

^c ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^d EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^e SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^f BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^g ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

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

ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; ENZYME DEFICIENCY; ETHNICITY; FEMALE; FOLLOW UP; HOMOZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MUTATIONAL ANALYSIS; NEWBORN SCREENING; PREVALENCE; RACE DIFFERENCE; TANDEM MASS SPECTROMETRY; UNITED KINGDOM; CHILD; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; ETHNIC GROUP; GENETIC SCREENING; GENETICS; HOMOZYGOTE; INCIDENCE; MASS SCREENING; METHODOLOGY; NEWBORN; SINGLE NUCLEOTIDE POLYMORPHISM;

ACYL-COA DEHYDROGENASE; CHILD; ETHNIC GROUPS; GENETIC SCREENING; GREAT BRITAIN; HOMOZYGOTE; HUMANS; INCIDENCE; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MASS SCREENING; NEONATAL SCREENING; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE;

EID: 60549100027     PISSN: 09691413     EISSN: 14755793     Source Type: Journal    
DOI: 10.1258/jms.2008.008043     Document Type: Article

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