Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: Identification of a novel variant

Clinical Biochemistry

Volumn 45, Issue 15, 2012, Pages 1167-1172

  Thodi, Georgia ^a   Georgiou, Vassiliki ^a   Molou, Elina ^a   Loukas, Yannis L ^b   Dotsikas, Yannis ^b   Biti, Sofia ^c   Papadopoulos, Konstantinos ^c   Doulgerakis, Emmanuel ^c  

^a Neoscreen Ltd   (Greece)

^b UNIVERSITY OF ATHENS   (Greece)

^c IASO   (Greece)

Author keywords

GC MS; MCAD deficiency; Mutations; Newborn screening; Sequencing

Indexed keywords

ENZYME VARIANT; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

ACADM GENE; ALLELE; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; ENZYME ANALYSIS; GENE; GENE MUTATION; GENETIC CODE; GENETIC SCREENING; GREECE; HUMAN; HUMAN TISSUE; LIQUID CHROMATOGRAPHY; MASS FRAGMENTOGRAPHY; MASS SPECTROMETRY; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; NEWBORN; NEWBORN SCREENING; PATHOGENICITY; POLYMERASE CHAIN REACTION; PRENATAL SCREENING; PREVALENCE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; URINALYSIS;

ACYL-COA DEHYDROGENASE; ALLELES; BASE SEQUENCE; CARNITINE; GENETIC ASSOCIATION STUDIES; GREECE; HUMANS; INFANT, NEWBORN; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; NEONATAL SCREENING; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREVALENCE; SEQUENCE ANALYSIS, DNA;

EID: 84866288703     PISSN: 00099120     EISSN: 18732933     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2012.05.030     Document Type: Article

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