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	21.	Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency. [electronic resource] by Korman, Stanley H Waterham, Hans R Gutman, Alisa Jakobs, Cornelis Wanders, Ronald J A Producer: 20051209 In: Molecular genetics and metabolism vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Quantitative determination of erythrocyte folate vitamer distribution by liquid chromatography-tandem mass spectrometry. [electronic resource] by Smith, Desirée E C Kok, Robert M Teerlink, Tom Jakobs, Cornelis Smulders, Yvo M Producer: 20060621 In: Clinical chemistry and laboratory medicine vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Exocytotic release of creatine in rat brain. [electronic resource] by Almeida, Ligia S Salomons, Gajja S Hogenboom, Francois Jakobs, Cornelis Schoffelmeer, Anton N M Producer: 20060810 In: Synapse (New York, N.Y.) vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language. [electronic resource] by O'Rourke, Declan J Ryan, Stephanie Salomons, Gajja Jakobs, Cornelis Monavari, Ahmad King, Mary D Producer: 20090504 In: Developmental medicine and child neurology vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Serum sarcosine is not a marker for prostate cancer. [electronic resource] by Struys, Eduard A Heijboer, Annemieke C van Moorselaar, Jeroen Jakobs, Cornelis Blankenstein, Marinus A Producer: 20100726 In: Annals of clinical biochemistry vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Thiamine deficiency in a dog: clinical, clinicopathologic, and magnetic resonance imaging findings. [electronic resource] by Garosi, Laurent S Dennis, Ruth Platt, Simon R Corletto, Federico de Lahunta, Alexander Jakobs, Cornelis Producer: 20031209 In: Journal of veterinary internal medicine vol. 17 Availability: No items available. Save to lists Add to cart (remove)
	27.	The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency. [electronic resource] by Struys, Eduard A Bok, Levinus A Emal, Dina Houterman, Saskia Willemsen, Michel A Jakobs, Cornelis Producer: 20130404 In: Journal of inherited metabolic disease vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Progress in understanding 2-hydroxyglutaric acidurias. [electronic resource] by Kranendijk, Martijn Struys, Eduard A Salomons, Gajja S Van der Knaap, Marjo S Jakobs, Cornelis Producer: 20130205 In: Journal of inherited metabolic disease vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. [electronic resource] by Bok, Levinus A Struys, Eduard Willemsen, Michel A A P Been, Jasper V Jakobs, Cornelis Producer: 20070813 In: Archives of disease in childhood vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Comments on 'Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures' in Molecular Genetics and Metabolism' 2014 Mar;111(3):404-7 by M.G. de Roo, N.G. Abeling, C.B. Majoie, A.M. Bosch, J.H. Koelman, J.M. Cobben, M. Duran, B.T. Poll-The. [electronic resource] by van der Stoep, Nienke Onkenhout, Willem Prins, Sandra Struys, Eduard Jakobs, Cornelis Peeters-Scholte, Cacha Publication details: Molecular genetics and metabolism reports 2014 In: Molecular genetics and metabolism reports vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	What have we here? A man or a fish? [electronic resource] by Nanayakkara, Prabath W B Meijboom, Martina Kramer, Mark H H Wevers, Ron A Jakobs, Cornelis Producer: 20101216 In: Lancet (London, England) vol. 376 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	A catabolic block does not sufficiently explain how 2-deoxy-D-glucose inhibits cell growth. [electronic resource] by Ralser, Markus Wamelink, Mirjam M Struys, Eduard A Joppich, Christian Krobitsch, Sylvia Jakobs, Cornelis Lehrach, Hans Producer: 20081217 In: Proceedings of the National Academy of Sciences of the United States of America vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Metabolic reconfiguration precedes transcriptional regulation in the antioxidant response. [electronic resource] by Ralser, Markus Wamelink, Mirjam M C Latkolik, Simone Jansen, Erwin E W Lehrach, Hans Jakobs, Cornelis Producer: 20090928 In: Nature biotechnology vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. [electronic resource] by Schmitt, Bernhard Baumgartner, Matthias Mills, Philippa B Clayton, Peter T Jakobs, Cornelis Keller, Elmar Wohlrab, Gabriele Producer: 20100720 In: Developmental medicine and child neurology vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism. [electronic resource] by Huck, Jojanneke H J Roos, Birthe Jakobs, Cornelis van der Knaap, Marjo S Verhoeven, Nanda M Producer: 20050224 In: Molecular genetics and metabolism vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	Mutations in the ALDH7A1 gene cause pyridoxine-dependent seizures. [electronic resource] by Been, Jasper V Bok, Levinus A Willemsen, Michèl A A P Struys, Eduard A Jakobs, Cornelis Producer: 20081103 In: Arquivos de neuro-psiquiatria vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development. [electronic resource] by Jansen, Erwin E W Struys, Eduard Jakobs, Cornelis Hager, Elizabeth Snead, O Carter Gibson, K Michael Producer: 20090401 In: BMC developmental biology vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). [electronic resource] by Dill, Patricia Schneider, Jacques Weber, Peter Trachsel, Daniel Tekin, Mustafa Jakobs, Cornelis Thöny, Beat Blau, Nenad Producer: 20120228 In: Molecular genetics and metabolism vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation. [electronic resource] by Schiaffino, Maria C Bellini, Carlo Costabello, Laura Caruso, Ubaldo Jakobs, Cornelis Salomons, Gajja S Bonioli, Eugenio Producer: 20060530 In: Neurogenetics vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	40.	Detection of variants in SLC6A8 and functional analysis of unclassified missense variants. [electronic resource] by Betsalel, Ofir T Pop, Ana Rosenberg, Efraim H Fernandez-Ojeda, Matilde Jakobs, Cornelis Salomons, Gajja S Producer: 20120716 In: Molecular genetics and metabolism vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 181 results.