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Browsing by Author Salomons, G.S.

Full Text	Issue Date	Title	Author(s)
	2010	[(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency case.	Tassini, M.; Zannolli, R.; Buoni, S., et al
	2008	Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes: A report of two sibs.	Delnooz, C.C.S.; Schelhaas, J.H.; Warrenburg, B.P.C. van de, et al
	2011	Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database	Betsalel, O.T.; Rosenberg, E.H.; Almeida, L.S., et al
	2008	Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.	Betsalel, O.T.; Kamp, JM van de; Martinez-Munoz, C., et al
	2007	Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.	Rosenberg, E.H.; Martinez Munoz, C.; Betsalel, O.T., et al
	2009	Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.	Engelke, U.F.H.; Tassini, M.; Hayek, J., et al
	2004	High prevalence of SLC6A8 deficiency in X-linked mental retardation.	Rosenberg, E.H.; Almeida, L.S.; Kleefstra, T., et al
	2010	IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.	Kranendijk, M.; Struys, E.A.; Schaftingen, E. van, et al
	2007	An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).	Salomons, G.S.; Bok, L.A.; Struys, E.A., et al
	2005	Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.	Kleefstra, T.; Rosenberg, E.H.; Salomons, G.S., et al
	2004	Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.	Wolf, N.I.; Haas, D.; Hoffmann, G.F., et al