The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Increased nuchal translucency in a case of long-chain 3-hydroxyacyl- coenzyme A dehydrogenase deficiency.

We present a case where the embryo showed an increased nuchal edema and a metabolic disorder. At 31 weeks of gestation the fetus developed a cardiomegaly and a hydrops. In this case, a long-chain 3-hydroxacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency) was confirmed by biochemical investigations in cultured chorionic villus cells and by DNA analysis. This metabolic disease causes a reduced production of mitochondrial trifunctional proteins and is a very rare autosomal-recessive disease.[1]

References

  1. Increased nuchal translucency in a case of long-chain 3-hydroxyacyl- coenzyme A dehydrogenase deficiency. Tercanli, S., Uyanik, G., Hösli, I., Cagdas, A., Holzgreve, W. Fetal. Diagn. Ther. (2000) [Pubmed]
 
WikiGenes - Universities