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Browsing by Author Jakobs, C.

Full Text	Issue Date	Title	Author(s)
	2011	N-acetylaspartylglutamate in CNS hypomyelination	Wamelink, M.M.; Struys, E.; Holwerda, U.; Sistermans, E.A.; Spaendonk, R.M.L. van, 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.; Kleefstra, T.; Schwartz, C.E., et al
	2010	Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.	Engelke, U.F.H.; Zijlstra, F.S.M.; Mochel, F.; Valayannopoulos, V.; Rabier, D., 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	The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy.	Bok, L.A.; Maurits, N.M.; Willemsen, M.A.A.P.; Jakobs, C.; Teune, L.K., et al
	2010	What have we here? A man or a fish?	Nanayakkara, P.W.; Meijboom, M.; Kramer, M.H.W.; Wevers, R.A.; Jakobs, C.
	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	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.
	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.; Rosenberg, E.H.; Brouwer, A.P.M. de, 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
	2007	Pyridosineafhankelijke epilepsie.	Bok, L.A.; Struys, E.A.; Jakobs, C.; Been, J.V.; Willemsen, M.A.A.P.
	2007	Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.	Rosenberg, E.H.; Martinez Munoz, C.; Betsalel, O.T.; Dooren, S. van; Fernandez, M., et al
	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
	2006	Cellular folate vitamer distribution during and after correction of vitamin B12 deficiency: a case for the methylfolate trap.	Smulders, Y.M.; Smith, D.E.; Kok, R.M.; Teerlink, T.; Swinkels, D.W., et al
	2006	Mutations in antiquitin in individuals with pyridoxine-dependent seizures.	Mills, P.B.; Struys, E.A.; Jakobs, C.; Plecko, B.; Baxter, P., et al
	2006	Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview.	Castro, R.; Rivera, I.; Blom, H.J.; Jakobs, C.; Almeida, I.T. de
	2005	Pipecolic acid: a diagnostic marker in pyridoxine-dependent epilepsy.	Willemsen, M.A.A.P.; Mavinkurve-Groothuis, A.M.; Wevers, R.A.; Rotteveel, J.J.; Jakobs, C.
	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
	2004	High prevalence of SLC6A8 deficiency in X-linked mental retardation.	Rosenberg, E.H.; Almeida, L.S.; Kleefstra, T.; Grauw, R.S. de; Yntema, H.G., et al
	2004	5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations are associated with DNA hypomethylation.	Castro, R.; Rivera, I.; Ravasco, P.; Camilo, M.E.; Jakobs, C., 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.; Jakobs, C.; Salomons, G.S., et al
	1997	Oudere patiënten met een verlaagde plasma-vitamine-B12 concentratie hebben een vitamine-B12-deficiëntie	Asselt, D.Z.B. van; Blom, H.J.; Zuiderent, R.; Wevers, R.A.; Jakobs, C., et al
	1997	The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-Hydroxybutyric Aciduria): case reports of 23 new patients	Gibson, K.M.; Christensen, E.; Jakobs, C.; Fowler, B.; Clarke, M.A., et al
	1996	Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glyco-protein syndrome	Knaap, M.S. van der; Wevers, R.A.; Monnens, L.A.H.; Wijk, J.E.A.; Jakobs, C.
	1995	Hyperhomocysteinaemia and endothelial dysfunction in young patients with peripheral arterial occlusive disease.	Berg, M. van den; Boers, G.H.J.; Franssen-Franken, D.G.; Blom, H.J.; Kamp, G.J. van, et al
	1995	Three different methods for the determination of total homocysteine in plasma	Poele-Pothoff, M.T.W.B. te; Berg, M. van den; Franssen-Franken, D.G.; Boers, G.H.J.; Jakobs, C., et al
	1995	Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome	Elpeleg, O.N.; Ruitenbeek, W.; Jakobs, C.; Barash, V.; Vivo, D.C. De, et al
	1995	Hyperhomocysteinaemia and endothelial dysfunction in young patients with peripheral arterial occlusive disease	Berg, M. van den; Boers, G.H.J.; Franssen-Franken, D.G.; Blom, H.J.; Kamp, G.J. van, et al