G
Gabriele Reimann
Researcher at University of Würzburg
Publications - 1
Citations - 156
Gabriele Reimann is an academic researcher from University of Würzburg. The author has contributed to research in topics: Asymptomatic & L2HGDH. The author has an hindex of 1, co-authored 1 publications receiving 148 citations.
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L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease.
Peter G. Barth,Georg F. Hoffmann,Jaak Jaeken,Willy Lehnert,Folker Hanefeld,Albert H. van Gennip,Marinus Duran,Jaap Valk,Ruud B.H. Schutgens,Friedrich K. Trefz,Gabriele Reimann,Hans-Peter Hartung +11 more
TL;DR: A novel inherited neurometabolic disease, probably autosomal recessive, with distinct clinical, biochemical, and neuroimaging features is described, and the elevated CSF/plasma ratio suggests that it is in part generated within the central nervous system.