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Dokumenttyp:
journal article 
Autor(en):
Mütze, S; Ahillen, I; Rudnik-Schoeneborn, S; Eggermann, T; Leeners, B; Neumaier-Wagner, PM; Kuse, S; Rath, W; Zerres, K 
Titel:
Neither maternal nor fetal mutation (E474Q) in the alpha-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome. 
Abstract:
OBJECTIVE: An association between maternal HELLP syndrome and fetal long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency has been proposed. LCHAD catalyzes the third step in the beta-oxidation of fatty acids in mitochondria. Whereas about 75% of LCHAD-deficient patients carry a G-to-C mutation at nucleotide position 1528 (Glu474Gln, E474Q) on both chromosomes, compound heterozygosity for E474Q on one chromosome and a second different LCHAD mutation on the other can be observed in up to...    »
 
Zeitschriftentitel:
J Perinat Med 
Jahr:
2007 
Band / Volume:
35 
Heft / Issue:
Seitenangaben Beitrag:
76-8 
Sprache:
eng 
Print-ISSN:
0300-5577 
TUM Einrichtung:
r Perinatalmedizin und Perinatalphysiologie