MCAD deficiency in Denmark

Molecular Genetics and Metabolism

Volumn 106, Issue 2, 2012, Pages 175-188

  Andresen, Brage Storstein ^a,b   Lund, Allan Meldgaard ^c   Hougaard, David Michael ^d   Christensen, Ernst ^c   Gahrn, Birthe ^a   Christensen, Mette ^c   Bross, Peter ^a   Vested, Anne ^a   Simonsen, Henrik ^e   Skogstrand, Kristin ^d   Olpin, Simon ^f   Brandt, Niels Jacob ^c   Skovby, Flemming ^c   Nørgaard Pedersen, Bent ^d   Gregersen, Niels ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^c Rigshospitalet   (Denmark)

^d STATENS SERUM INSTITUT   (Denmark)

^e HVIDOVRE HOSPITAL   (Denmark)

^f SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Acylcarnitines; Fattyacid oxidation; Genotype phenotype; Newborn screening; Splicing

Indexed keywords

ARTICLE; CHILD; CLINICAL FEATURE; DENMARK; FAMILY HISTORY; FEMALE; GENE MUTATION; GENOTYPE; HIGH RESOLUTION MELTING ANALYSIS; HOMOZYGOTE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SIBLING; TANDEM MASS SPECTROMETRY;

ACYL-COA DEHYDROGENASE; ALLELES; BASE SEQUENCE; CARNITINE; DENMARK; FAMILY; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MALE; MUTATION; NEONATAL SCREENING; PHENOTYPE; TANDEM MASS SPECTROMETRY;

EID: 84860915155     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.03.018     Document Type: Article

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