Genotypic differences of MCAD deficiency in the Asian population: Novel genotype and clinical symptoms preceding newborn screening notification

Genetics in Medicine

Volumn 7, Issue 5, 2005, Pages 339-343

  Ensenauer, Regina ^a   Winters, Jennifer L ^d   Parton, Patricia A ^b   Kronn, David F ^b   Kim, Jong Won ^c   Matern, Dietrich ^a   Rinaldo, Piero ^a   Hahn, Si Houn ^a  

^a Mayo Clinic   (United States)

^b NEW YORK MEDICAL COLLEGE   (United States)

^c Sungkyunkwan University   (South Korea)

^d NONE

Author keywords

Asian; Genotype; Korean; MCAD deficiency; Newborn screening

Indexed keywords

ACYLCARNITINE; CARNITINE; GLYCINE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; N ACYLGLYCINE; UNCLASSIFIED DRUG;

ACADM GENE; ARTICLE; ASIAN; BIOCHEMISTRY; CASE REPORT; CAUCASIAN; CHROMOSOME 1P; CONTROLLED STUDY; ENZYME DEFICIENCY; GENE; GENE DELETION; GENETIC DIFFERENCE; GENOTYPE; HUMAN; INFANT; JAPAN; KOREA; MALE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METABOLIC DISORDER; MISSENSE MUTATION; MOLECULAR BIOLOGY; MUTATION RATE; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PREVALENCE; RARE DISEASE; SYMPTOMATOLOGY;

ACYL-COA DEHYDROGENASE; BASE SEQUENCE; CARNITINE; GENOTYPE; HUMANS; INFANT, NEWBORN; KOREA; MALE; METABOLISM, INBORN ERRORS; MUTATION, MISSENSE; NEONATAL SCREENING; NEW YORK; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 20444505209     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000164548.54482.9D     Document Type: Article

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