DSpace at RU >

Browsing by Author Struys, E.A.

Full Text	Issue Date	Title	Author(s)
	2012	The measurement of urinary Delta(1)-piperideine-6-carboxylate, the alter ego of alpha-aminoadipic semialdehyde, in Antiquitin deficiency.	Struys, E.A.; Bok, L.A.; Emal, D.; Houterman, S.; Willemsen, M.A.A.P., et al
	2010	IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.	Kranendijk, M.; Struys, E.A.; Schaftingen, E. van; Gibson, K.M.; Kanhai, W.A., et al
	2010	Antenatal treatment in two Dutch families with pyridoxine-dependent seizures.	Bok, L.A.; Been, J.V.; Struys, E.A.; Jakobs, C.; Rijper, E.A., et al
	2009	Sedoheptulokinase deficiency due to a 57-KB deletion in cystinosis patients causes accumulation of sedoheptulose: elucidation of the function of the carkl gene	Wamelink, M.M.; Struys, E.A.; Jansen, E.E.W.; Zijlstra, F.S.M.; Engelke, U.F.H., et al
	2008	Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.	Wamelink, M.M.; Struys, E.A.; Jansen, E.E.; Levtchenko, E.N.; Zijlstra, F.S., et al
	2008	Mutations in the ALDH7A1 gene cause pyridoxine-dependent seizures.	Been, J.V.; Bok, L.A.; Willemsen, M.A.A.P.; Struys, E.A.; Jakobs, C.
	2007	Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.	Bok, L.A.; Struys, E.A.; Willemsen, M.A.A.P.; Been, J.V.; Jakobs, C.
	2007	An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).	Salomons, G.S.; Bok, L.A.; Struys, E.A.; Pope, L.L.; Darmin, P.S., et al
	2007	Pyridosineafhankelijke epilepsie.	Bok, L.A.; Struys, E.A.; Jakobs, C.; Been, J.V.; Willemsen, M.A.A.P.
	2006	Mutations in antiquitin in individuals with pyridoxine-dependent seizures.	Mills, P.B.; Struys, E.A.; Jakobs, C.; Plecko, B.; Baxter, P., et al
	2005	Stable-isotope dilution liquid chromatography-electrospray injection tandem mass spectrometry method for fast, selective measurement of S-adenosylmethionine and S-adenosylhomocysteine in plasma.	Gellekink, H.; Oppenraaij-Emmerzaal, D. van; Rooij, A. van; Struys, E.A.; Heijer, M. den, et al
	2005	Intracellular S-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVEC.	Castro, R.; Rivera, I.; Martins, C.; Struys, E.A.; Jansen, E.E., et al