Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation()

por Jaeger, B., Abeling, N.G., Salomons, G.S., Struys, E.A., Simas-Mendes, M., Geukers, V.G., Poll-The, B.T.
Publicado 2016

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

por Wernli, C., Finochiaro, S., Volken, C., Andresen-Streichert, H., Buettler, A., Gygax, D., Salomons, G.S., Jansen, E.E., Ainslie, G.R., Vogel, K.R., Gibson, K.M.
Publicado 2016