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Results: 1-17 |
Results: 17
In vivo and in vitro NMR spectroscopy reveal a putative novel inborn errorinvolving polyol metabolism
Authors: Moolenaar, SH van der Knaap, MS Engelke, UFH Pouwels, PJW Janssen-Zijlstra, FSM Verhoeven, NM Jakobs, C Wevers, RA
Citation: Sh. Moolenaar et al., In vivo and in vitro NMR spectroscopy reveal a putative novel inborn errorinvolving polyol metabolism, NMR BIOMED, 14(3), 2001, pp. 167-176
Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
Authors: Cecil, KM Salomons, GS Ball, WS Wong, B Chuck, G Verhoeven, NM Jakobs, C DeGrauw, TJ
Citation: Km. Cecil et al., Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?, ANN NEUROL, 49(3), 2001, pp. 401-404
Carnitine-acylcaraitine translocase deficiency: phenotype, residual enzymeactivity and outcome
Authors: Lopriore, E Gemke, RJBJ Verhoeven, NM Jakobs, C Wanders, RJA Roeleveld-Versteeg, ABC Poll-The, BT
Citation: E. Lopriore et al., Carnitine-acylcaraitine translocase deficiency: phenotype, residual enzymeactivity and outcome, EUR J PED, 160(2), 2001, pp. 101-104
Human metabolism of phytanic acid and pristanic acid
Authors: Verhoeven, NM Jakobs, C
Citation: Nm. Verhoeven et C. Jakobs, Human metabolism of phytanic acid and pristanic acid, PROG LIPID, 40(6), 2001, pp. 453-466
X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome
Authors: Salomons, GS van Dooren, SJM Verhoeven, NM Cecil, KM Ball, WS Degrauw, TJ Jakobs, C
Citation: Gs. Salomons et al., X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome, AM J HU GEN, 68(6), 2001, pp. 1497-1500
Transaldolase deficiency: Liver cirrhosis associated with a new inborn error in the pentose phosphate pathway
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
Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect
Authors: van der Knaap, MS Verhoeven, NM Maaswinkel-Mooij, P Pouwels, PJW Onkenhout, W Peeters, EAJ Stockler-Ipsiroglu, S Jakobs, C
Citation: Ms. Van Der Knaap et al., Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect, ANN NEUROL, 47(4), 2000, pp. 540-543
Atypical Refsum disease with pipecolic acidemia and abnormal catalase distribution
Authors: Baumgartner, MR Jansen, GA Verhoeven, NM Mooyer, PAW Jakobs, C Roels, F Espeel, M Fourmaintraux, A Bellet, H Wanders, RJA Saudubray, JM
Citation: Mr. Baumgartner et al., Atypical Refsum disease with pipecolic acidemia and abnormal catalase distribution, ANN NEUROL, 47(1), 2000, pp. 109-113
Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall
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
Phytanic acid alpha-oxidation in man: Identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome
Authors: Jansen, GA Denis, S Verhoeven, NM Jakobs, C Wanders, RJA
Citation: Ga. Jansen et al., Phytanic acid alpha-oxidation in man: Identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome, J INH MET D, 23(4), 2000, pp. 421-424
Phytanoyl-CoA hydroxylase activity is induced by phytanic acid
Authors: Zomer, AWM Jansen, GA van der Burg, B Verhoeven, NM Jakobs, C van der Saag, PT Wanders, RJA Poll-The, T
Citation: Awm. Zomer et al., Phytanoyl-CoA hydroxylase activity is induced by phytanic acid, EUR J BIOCH, 267(13), 2000, pp. 4063-4067
Phytanic acid alpha-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes
Authors: Jansen, GA Verhoeven, NM Denis, S Romeijn, GJ Jakobs, C ten Brink, HJ Wanders, RJA
Citation: Ga. Jansen et al., Phytanic acid alpha-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes, BBA-MOL C B, 1440(2-3), 1999, pp. 176-182
Increased cerebrospinal fluid glycine: A biochemical marker for a leukoencephalopathy with vanishing white matter
Authors: van der Knaap, MS Wevers, RA Kure, S Gabreels, FJM Verhoeven, NM van Raaij-Selten, B Jaeken, J
Citation: Ms. Van Der Knaap et al., Increased cerebrospinal fluid glycine: A biochemical marker for a leukoencephalopathy with vanishing white matter, J CHILD NEU, 14(11), 1999, pp. 728-731
Leukoencephalopathy associated with a disturbance in the metabolism of polyols
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
Retrospective diagnosis of carbohydrate-deficient glycoprotein syndrome type Ib
Authors: Neele, DM Kneepkens, CMF Verhoeven, NM Jakobs, C
Citation: Dm. Neele et al., Retrospective diagnosis of carbohydrate-deficient glycoprotein syndrome type Ib, J INH MET D, 22(8), 1999, pp. 936-A937
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
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
An accurate stable isotope dilution gas chromatographic mass spectrometricapproach to the diagnosis of guanidinoacetate methyltransferase deficiency
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
Risultati: 1-17 |