Genomes and Genes


Vassiliki Konstantopoulou


Affiliation: Medical University of Vienna
Country: Austria


  1. Karall D, Brunner Krainz M, Kogelnig K, Konstantopoulou V, Maier E, Möslinger D, et al. Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD). Orphanet J Rare Dis. 2015;10:21 pubmed publisher
    ..There is no relevant difference between the patients treated in the respective centers. Concluding from single case reports, anaplerotic therapy with heptanoate should be further evaluated. ..
  2. Koch J, Freisinger P, Feichtinger R, Zimmermann F, Rauscher C, Wagentristl H, et al. Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype. Orphanet J Rare Dis. 2015;10:40 pubmed publisher
    ..However, TTC19 deficient patients do show characteristic clinical and neuroimaging features, which may facilitate diagnosis of this yet rare disorder. Normal MRC complex III activity does not exclude the diagnosis. ..