Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

by B. Jaeger, N.G. Abeling, G.S. Salomons, E.A. Struys, M. Simas-Mendes, V.G. Geukers, B.T. Poll-The
Published 2016-03-01

Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for γ-hydroxybutyric acid (GHB) in biofluids

by C. Wernli, S. Finochiaro, C. Volken, H. Andresen-Streichert, A. Buettler, D. Gygax, G.S. Salomons, E.E. Jansen, G.R. Ainslie, K.R. Vogel, K.M. Gibson
Published 2017-06-01