DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency

Prenatal Diagnosis

Volumn 25, Issue 1, 2005, Pages 60-64

  Olsen, Rikke K J ^a   Andresen, Brage S ^a,b   Christensen, Ernst ^c   Mandel, Hanna ^d   Skovby, Flemming ^c   Nielsen, Jens Peter ^e   Knudsen, Inga ^a   Vianey Saban, Christine ^f   Simonsen, Henrik ^c,g   Gregersen, Niels ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

^c International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health   (Denmark)

^d RAMBAM MEDICAL CENTER   (Israel)

^e VIBORG HOSPITAL   (Denmark)

^f HÔPITAL DEBROUSSE   (France)

^g STATENS SERUM INSTITUT   (Denmark)

Author keywords

DNA based prenatal diagnosis; Electron transfer flavoprotein (ETF); ETF ubiquinone oxidoreductase (ETF QO); Glutaric aciduria type II (GAII); Multiple acyl CoA dehydrogenation deficiency (MADD)

Indexed keywords

AMINO ACID; CHOLINE; ELECTRON TRANSFERRING FLAVOPROTEIN; ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE; FATTY ACID; GENOMIC DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG;

AMNION CELL; AMNION FLUID ANALYSIS; ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; ELECTRON TRANSPORT; FATTY ACID OXIDATION; GENE MUTATION; GESTATIONAL AGE; HUMAN; MITOCHONDRIAL DNA DISORDER; MULTIPLE ACYL COENZYME A DEHYDROGENATION DEFICIENCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY; SEQUENCE ANALYSIS;

ACYL-COA DEHYDROGENASE; ADULT; CELLS, CULTURED; CHORIONIC VILLI SAMPLING; DNA; ELECTRON-TRANSFERRING FLAVOPROTEINS; FEMALE; HUMANS; IRON-SULFUR PROTEINS; MUTATION; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; PREGNANCY; PREGNANCY TRIMESTER, FIRST; REPRODUCIBILITY OF RESULTS;

EID: 19944432881     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.983     Document Type: Article

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