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	1.	Enantiomeric analysis of D- and L-pipecolic acid in plasma using a chiral capillary gas chromatography column and mass fragmentography. [electronic resource] by Struys, E A Jakobs, C Producer: 19990909 In: Journal of inherited metabolic disease vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid. [electronic resource] by Struys, E A Gibson, K M Jakobs, C Producer: 20071025 In: Journal of inherited metabolic disease vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review. [electronic resource] by Wamelink, M M C Struys, E A Jakobs, C Producer: 20090424 In: Journal of inherited metabolic disease vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Determination of S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid by stable-isotope dilution tandem mass spectrometry. [electronic resource] by Struys, E A Jansen, E E de Meer, K Jakobs, C Producer: 20001025 In: Clinical chemistry vol. 46 Availability: No items available. Save to lists Add to cart (remove)
	5.	Combined method for the determination of gamma-aminobutyric and beta-alanine in cerebrospinal fluid by stable isotope dilution mass spectrometry. [electronic resource] by Struys, E A Guérand, W S ten Brink, H J Jakobs, C Producer: 19991213 In: Journal of chromatography. B, Biomedical sciences and applications vol. 732 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: application to SSADH deficiency. [electronic resource] by Struys, E A Jansen, E E W Gibson, K M Jakobs, C Producer: 20060705 In: Journal of inherited metabolic disease vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Development of a stable-isotope dilution assay for gamma-aminobutyric acid (GABA) transaminase in isolated leukocytes and evidence that GABA and beta-alanine transaminases are identical. [electronic resource] by Schor, D S Struys, E A Hogema, B M Gibson, K M Jakobs, C Producer: 20010322 In: Clinical chemistry vol. 47 Availability: No items available. Save to lists Add to cart (remove)
	8.	Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients. [electronic resource] by Wickenhagen, W V Salomons, G S Gibson, K M Jakobs, C Struys, E A Producer: 20090716 In: Journal of inherited metabolic disease vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. [electronic resource] by Plecko, B Stöckler-Ipsiroglu, S Paschke, E Erwa, W Struys, E A Jakobs, C Producer: 20000731 In: Annals of neurology vol. 48 Availability: No items available. Save to lists Add to cart (remove)
	10.	Quantification of 3-hydroxyglutaric acid in urine, plasma, cerebrospinal fluid and amniotic fluid by stable-isotope dilution negative chemical ionization gas chromatography-mass spectrometry. [electronic resource] by Schor, D S M Verhoeven, N M Struys, E A ten Brink, H J Jakobs, C Producer: 20030501 In: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences vol. 780 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts. [electronic resource] by Roe, D S Yang, B Z Vianey-Saban, C Struys, E Sweetman, L Roe, C R Producer: 20060302 In: Molecular genetics and metabolism vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation. [electronic resource] by Roe, C R Struys, E Kok, R M Roe, D S Harris, R A Jakobs, C Producer: 19981125 In: Molecular genetics and metabolism vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies. [electronic resource] by Kranendijk, M Salomons, G S Gibson, K M Van Schaftingen, E Jakobs, C Struys, E A Producer: 20111129 In: Biochimica et biophysica acta vol. 1812 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene. [electronic resource] by Jagadeesh, Sujatha Suresh, Beena Murugan, V Suresh, S Salomans, G S Struys, E A Jacobs, C Producer: 20140226 In: Paediatrics and international child health vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Novel mutations in pyridoxine-dependent epilepsy. [electronic resource] by Millet, A Salomons, G S Cneude, F Corne, C Debillon, T Jakobs, C Struys, E Hamelin, S Producer: 20111128 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats. [electronic resource] by Plecko, B Hoeger, H Jakobs, C Struys, E Stromberger, C Leschnik, M Muehl, A Stoeckler-Ipsiroglu, S Producer: 20060130 In: Journal of inherited metabolic disease vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Analysis of pristanic acid beta-oxidation intermediates in plasma from healthy controls and patients affected with peroxisomal disorders by stable isotope dilution gas chromatography mass spectrometry. [electronic resource] by Verhoeven, N M Schor, D S Struys, E A Jansen, E E Wanders, R J Jakobs, C Producer: 20030207 In: Journal of lipid research vol. 40 Availability: No items available. Save to lists Add to cart (remove)
	18.	Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine. [electronic resource] by Wamelink, M M Smith, D E Jansen, E E Verhoeven, N M Struys, E A Jakobs, C Producer: 20071025 In: Journal of inherited metabolic disease vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Inhibition of the pentose phosphate pathway decreases ischemia-reperfusion-induced creatine kinase release in the heart. [electronic resource] by Zuurbier, C J Eerbeek, O Goedhart, P T Struys, E A Verhoeven, N M Jakobs, C Ince, C Producer: 20040720 In: Cardiovascular research vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias. [electronic resource] by Struys, E A Verhoeven, N M Ten Brink, H J Wickenhagen, W V Gibson, K M Jakobs, C Producer: 20060705 In: Journal of inherited metabolic disease vol. 28 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 41 results.