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Results:
1-12
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Results: 12
Authors:
Schor, DSM
Struys, EA
Hogema, BM
Gibson, KM
Jakobs, C
Citation: Dsm. Schor et al., 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, CLIN CHEM, 47(3), 2001, pp. 525-531
Authors:
Verhoeven, NM
Huck, JHJ
Roos, B
Struys, EA
Salomons, GS
Douwes, AC
van der Knaap, MS
Jakobs, C
Citation: Nm. Verhoeven et al., Transaldolase deficiency: Liver cirrhosis associated with a new inborn error in the pentose phosphate pathway, AM J HU GEN, 68(5), 2001, pp. 1086-1092
Authors:
Costa, CG
Guerand, WS
Struys, EA
Holwerda, U
ten Brink, HJ
de Almeida, IT
Duran, M
Jakobs, C
Citation: Cg. Costa et al., Quantitative analysis of urinary acylglycines for the diagnosis of beta-oxidation defects using GC-NCI-MS, J PHARM B, 21(6), 2000, pp. 1215-1224
Authors:
Plecko, B
Stockler-Ipsiroglu, S
Paschke, E
Erwa, W
Struys, EA
Jakobs, C
Citation: B. Plecko et al., Pipecolic acid elevation in plasma and cerebrospinal fluid of two patientswith pyridoxine-dependent epilepsy, ANN NEUROL, 48(1), 2000, pp. 121-125
Authors:
Verhoeven, NM
Guerand, WS
Struys, EA
Bouman, AA
van der Knaap, MS
Jakobs, C
Citation: Nm. Verhoeven et al., Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall, J INH MET D, 23(8), 2000, pp. 835-840
Authors:
Struys, EA
Jansen, EEW
De Meer, K
Jakobs, C
Citation: Ea. Struys et al., Determination of S-adenosylmethionine and S-adenosylhomocysteine in plasmaand cerebrospinal fluid by stable-isotope dilution tandem mass spectrometry, CLIN CHEM, 46(10), 2000, pp. 1650-1656
Authors:
Struys, EA
Guerand, WS
ten Brink, HJ
Jakobs, C
Citation: Ea. Struys et al., Combined method for the determination of gamma-aminobutyric and beta-alanine in cerebrospinal fluid by stable isotope dilution mass spectrometry, J CHROMAT B, 732(1), 1999, pp. 245-249
Authors:
van der Knaap, MS
Wevers, RA
Struys, EA
Verhoeven, NM
Pouwels, PJW
Engelke, UFH
Feikema, W
Valk, J
Jakobs, C
Citation: Ms. Van Der Knaap et al., Leukoencephalopathy associated with a disturbance in the metabolism of polyols, ANN NEUROL, 46(6), 1999, pp. 925-928
Authors:
Struys, EA
Jakobs, C
Citation: Ea. Struys et C. Jakobs, Enantiomeric analysis of D- and L-pipecolic acid in plasma using a chiral capillary gas chromatography column and mass fragmentography, J INH MET D, 22(5), 1999, pp. 677-678
Authors:
Verhoeven, NM
Schor, DSM
Struys, EA
Jansen, EEW
ten Brink, HJ
Wanders, RJA
Jakobs, C
Citation: Nm. Verhoeven et al., 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, J LIPID RES, 40(2), 1999, pp. 260-266
Authors:
Ventura, FV
Costa, CG
Struys, EA
Ruiter, J
Allers, P
Ijlst, L
de Almeida, T
Duran, M
Jakobs, C
Wanders, RJA
Citation: Fv. Ventura et al., Quantitative acylcarnitine profiling in fibroblasts using [U-C-13] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects, CLIN CHIM A, 281(1-2), 1999, pp. 1-17
Authors:
Struys, EA
Jansen, EEW
ten Brink, HJ
Verhoeven, NM
van der Knaap, MS
Jakobs, C
Citation: Ea. Struys et al., An accurate stable isotope dilution gas chromatographic mass spectrometricapproach to the diagnosis of guanidinoacetate methyltransferase deficiency, J PHARM B, 18(4-5), 1998, pp. 659-665
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