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Results: 1-23 |
Results: 23
PEROXISOMAL DISORDERS
Authors: POLLTHE BT DEKONING TJ DORLAND L DURAN M
Citation: Bt. Pollthe et al., PEROXISOMAL DISORDERS, Neuroscience research communications, 22(2), 1998, pp. 63-71
BENEFICIAL-EFFECTS OF L-SERINE AND GLYCINE IN THE MANAGEMENT OF SEIZURES IN 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY
Authors: DEKONING TJ DURAN M DORLAND L GOOSKENS R VANSCHAFTINGEN E JAEKEN J BLAU N BERGER R POLLTHE BT
Citation: Tj. Dekoning et al., BENEFICIAL-EFFECTS OF L-SERINE AND GLYCINE IN THE MANAGEMENT OF SEIZURES IN 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY, Annals of neurology, 44(2), 1998, pp. 261-265
RECURRENT NONIMMUNE HYDROPS-FETALIS ASSOCIATED WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
Authors: DEKONING TJ TOET M DORLAND L DEVRIES LS VANDENBERG IET DURAN M POLLTHE BT
Citation: Tj. Dekoning et al., RECURRENT NONIMMUNE HYDROPS-FETALIS ASSOCIATED WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, Journal of inherited metabolic disease, 21(6), 1998, pp. 681-682
THE EFFECT OF FASTING, LONG-CHAIN TRIGLYCERIDE LOAD AND CARNITINE LOAD ON PLASMA LONG-CHAIN ACYLCARNITINE LEVELS IN MITOCHONDRIAL VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
Authors: COSTA CG DORLAND L DEALMEIDA IT JAKOBS C DURAN M POLLTHE BT
Citation: Cg. Costa et al., THE EFFECT OF FASTING, LONG-CHAIN TRIGLYCERIDE LOAD AND CARNITINE LOAD ON PLASMA LONG-CHAIN ACYLCARNITINE LEVELS IN MITOCHONDRIAL VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY, Journal of inherited metabolic disease, 21(4), 1998, pp. 391-399
SIMULTANEOUS ANALYSIS OF PLASMA-FREE FATTY-ACIDS AND THEIR 3-HYDROXY ANALOGS IN FATTY-ACID BETA-OXIDATION DISORDERS
Authors: COSTA CG DORLAND L HOLWERDA U DEALMEIDA IT POLLTHE BT JAKOBS C DURAN M
Citation: Cg. Costa et al., SIMULTANEOUS ANALYSIS OF PLASMA-FREE FATTY-ACIDS AND THEIR 3-HYDROXY ANALOGS IN FATTY-ACID BETA-OXIDATION DISORDERS, Clinical chemistry, 44(3), 1998, pp. 463-471
A NOVEL DISORDER OF N-GLYCOSYLATION DUE TO PHOSPHOMANNOSE ISOMERASE DEFICIENCY
Authors: DEKONING TJ DORLAND L VANDIGGELEN OP BOONMAN AMC DEJONG GJ VANNOORT WL DESCHRYVER J DURAN M VANDENBERG IET GERWIG GJ BERGER R POLLTHE BT
Citation: Tj. Dekoning et al., A NOVEL DISORDER OF N-GLYCOSYLATION DUE TO PHOSPHOMANNOSE ISOMERASE DEFICIENCY, Biochemical and biophysical research communications, 245(1), 1998, pp. 38-42
SMITH-LEMLI-OPITZ-SYNDROME IS CAUSED BY MUTATIONS IN THE 7-DEHYDROCHOLESTEROL REDUCTASE GENE
Authors: WATERHAM HR WIJBURG FA HENNEKAM RCM VREKEN P POLLTHE BT DORLAND L DURAN M JIRA PE SMEITINK JAM WEVERS RA WANDERS RJA
Citation: Hr. Waterham et al., SMITH-LEMLI-OPITZ-SYNDROME IS CAUSED BY MUTATIONS IN THE 7-DEHYDROCHOLESTEROL REDUCTASE GENE, American journal of human genetics, 63(2), 1998, pp. 329-338
ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY CAUSED BY A A208T MUTATION - CLINICAL, BIOCHEMICAL AND DNA ANALYSES IN A 4-GENERATION FAMILY
Authors: AUSEMS MGEM BAKKER E BERGER R DURAN M VANDIGGELEN OP KEULEMANS JLM DEVALK HW KNEPPERS ALJ DORLAND L ESKES PF BEEMER FA POLLTHE BT SMEITINK JAM
Citation: Mgem. Ausems et al., ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY CAUSED BY A A208T MUTATION - CLINICAL, BIOCHEMICAL AND DNA ANALYSES IN A 4-GENERATION FAMILY, American journal of medical genetics, 68(2), 1997, pp. 236-239
BROAD-SPECIFICITY OF CARNITINE PALMITOYLTRANSFERASE-II TOWARDS LONG-CHAIN ACYL-COA BETA-OXIDATION INTERMEDIATES AND ITS PRACTICAL APPROACH TO THE SYNTHESIS OF VARIOUS LONG-CHAIN ACYLCARNITINES
Authors: VENTURA FV COSTA CG IJLST L DORLAND L DURAN M JAKOBS C DEALMEIDA IT WANDERS RJA
Citation: Fv. Ventura et al., BROAD-SPECIFICITY OF CARNITINE PALMITOYLTRANSFERASE-II TOWARDS LONG-CHAIN ACYL-COA BETA-OXIDATION INTERMEDIATES AND ITS PRACTICAL APPROACH TO THE SYNTHESIS OF VARIOUS LONG-CHAIN ACYLCARNITINES, Journal of inherited metabolic disease, 20(3), 1997, pp. 423-426
INHERITED DEFECTS OF PURINE AND PYRIMIDINE METABOLISM - LABORATORY METHODS FOR DIAGNOSIS
Authors: DURAN M DORLAND L MEULEMAN EEE ALLERS P BERGER R
Citation: M. Duran et al., INHERITED DEFECTS OF PURINE AND PYRIMIDINE METABOLISM - LABORATORY METHODS FOR DIAGNOSIS, Journal of inherited metabolic disease, 20(2), 1997, pp. 227-236
QUANTITATIVE-ANALYSIS OF PLASMA ACYLCARNITINES USING GAS-CHROMATOGRAPHY CHEMICAL-IONIZATION MASS FRAGMENTOGRAPHY
Authors: COSTA CG STRUYS EA BOOTSMA A TENBRINK HJ DORLAND L DEALMEIDA IT DURAN M JAKOBS C
Citation: Cg. Costa et al., QUANTITATIVE-ANALYSIS OF PLASMA ACYLCARNITINES USING GAS-CHROMATOGRAPHY CHEMICAL-IONIZATION MASS FRAGMENTOGRAPHY, Journal of lipid research, 38(1), 1997, pp. 173-182
3-HYDROXYOCTANOIC, 6-HYDROXYOCTANOIC AND 7-HYDROXYOCTANOIC ACIDS ARE METABOLITES OF MEDIUM-CHAIN TRIGLYCERIDES AND EXCRETED IN URINE AS GLUCURONIDES
Authors: COSTA CCG DORLAND L KROON M DEALMEIDA IT JAKOBS C DURAN M
Citation: Ccg. Costa et al., 3-HYDROXYOCTANOIC, 6-HYDROXYOCTANOIC AND 7-HYDROXYOCTANOIC ACIDS ARE METABOLITES OF MEDIUM-CHAIN TRIGLYCERIDES AND EXCRETED IN URINE AS GLUCURONIDES, Journal of mass spectrometry., 31(6), 1996, pp. 633-638
THE SIGNIFICANCE OF THE ALANIN-GLYOXALATE -AMINOTRANSFERASE RESIDUAL ENZYME-ACTIVITY IN TREATMENT OF PRIMARY HYPEROXALURIA - REVIEW OF A FEW CASES
Authors: BULLA M KUWERTZBROKING E FRUND S DURAN M DORLAND L HARMS E
Citation: M. Bulla et al., THE SIGNIFICANCE OF THE ALANIN-GLYOXALATE -AMINOTRANSFERASE RESIDUAL ENZYME-ACTIVITY IN TREATMENT OF PRIMARY HYPEROXALURIA - REVIEW OF A FEW CASES, Nieren- und Hochdruckkrankheiten, 25(12), 1996, pp. 579-588
MATERNAL 3-METHYLGLUTACONIC ACIDURIA ASSOCIATED WITH ABNORMALITIES INOFFSPRING
Authors: DEKONING TJ DURAN M DORLAND L BERGER R POLLTHE BT
Citation: Tj. Dekoning et al., MATERNAL 3-METHYLGLUTACONIC ACIDURIA ASSOCIATED WITH ABNORMALITIES INOFFSPRING, Lancet, 348(9031), 1996, pp. 887-888
MAGNETIC-RESONANCE-IMAGING AND SPECTROSCOPY OF THE BRAIN IN PROPIONICACIDEMIA - CLINICAL AND BIOCHEMICAL CONSIDERATIONS
Authors: BERGMAN AJIW VANDERKNAAP MS SMEITINK JAM DURAN M DORLAND L VALK J POLLTHE BT
Citation: Ajiw. Bergman et al., MAGNETIC-RESONANCE-IMAGING AND SPECTROSCOPY OF THE BRAIN IN PROPIONICACIDEMIA - CLINICAL AND BIOCHEMICAL CONSIDERATIONS, Pediatric research, 40(3), 1996, pp. 404-409
GROUP TESTS FOR SELECTIVE SCREENING OF INBORN-ERRORS OF METABOLISM
Authors: DURAN M DORLAND L WADMAN SK BERGER R
Citation: M. Duran et al., GROUP TESTS FOR SELECTIVE SCREENING OF INBORN-ERRORS OF METABOLISM, European journal of pediatrics, 153(7), 1994, pp. 190000027-190000032
SELECTIVE SCREENING FOR AMINO-ACID DISORDERS
Authors: DURAN M DORLAND L DEBREE PK BERGER R
Citation: M. Duran et al., SELECTIVE SCREENING FOR AMINO-ACID DISORDERS, European journal of pediatrics, 153(7), 1994, pp. 190000033-190000037
PEROXISOMAL DISORDERS - A REVIEW
Authors: FOURNIER B SMEITINK JAM DORLAND L BERGER R SAUDUBRAY JM POLLTHE BT
Citation: B. Fournier et al., PEROXISOMAL DISORDERS - A REVIEW, Journal of inherited metabolic disease, 17(4), 1994, pp. 470-486
EXPERIMENTAL-DESIGN OF P-31 MRS ASSESSMENT OF HUMAN FOREARM MUSCLE FUNCTION - RESTRICTIONS IMPOSED BY FUNCTIONAL-ANATOMY
Authors: JENESON JAL VANDOBBENBURGH JO VANECHTELD CJA LEKKERKERK C JANSSEN WJM DORLAND L BERGER R BROWN TR
Citation: Jal. Jeneson et al., EXPERIMENTAL-DESIGN OF P-31 MRS ASSESSMENT OF HUMAN FOREARM MUSCLE FUNCTION - RESTRICTIONS IMPOSED BY FUNCTIONAL-ANATOMY, Magnetic resonance in medicine, 30(5), 1993, pp. 634-640
CEREBROSPINAL-FLUID ORGANIC-ACIDS IN BIOTINIDASE DEFICIENCY
Authors: DURAN M BAUMGARTNER ER SUORMALA TM BRUINVIS L DORLAND L SMEITINK JAM POLLTHE BT
Citation: M. Duran et al., CEREBROSPINAL-FLUID ORGANIC-ACIDS IN BIOTINIDASE DEFICIENCY, Journal of inherited metabolic disease, 16(3), 1993, pp. 513-516
PHENYLPYRUVATE, FETAL DAMAGE, AND MATERNAL PHENYLKETONURIA SYNDROME
Authors: DORLAND L POLLTHE BT DURAN M SMEITINK JAM BERGER R
Citation: L. Dorland et al., PHENYLPYRUVATE, FETAL DAMAGE, AND MATERNAL PHENYLKETONURIA SYNDROME, Lancet, 341(8856), 1993, pp. 1351-1352
MASS-SPECTROMETRY AND INBORN-ERRORS OF METABOLISM - DIAGNOSTIC TRENDS
Authors: DURAN M DORLAND L KETTING D DEBREE PK BERGER R
Citation: M. Duran et al., MASS-SPECTROMETRY AND INBORN-ERRORS OF METABOLISM - DIAGNOSTIC TRENDS, Annales de biologie clinique, 51(3-5), 1993, pp. 304-304
ENZYME STUDIES ON HUMAN AND SNAIL BETA-MANNOSIDASE USING A FLUORESCENCE ASSAY AND AN HPLC DIODE-ARRAY METHOD WITH MAN-BETA(1-4)GLCNAC AS SUBSTRATE
Authors: VANPELT J HOKKE CH DORLAND L DURAN M
Citation: J. Vanpelt et al., ENZYME STUDIES ON HUMAN AND SNAIL BETA-MANNOSIDASE USING A FLUORESCENCE ASSAY AND AN HPLC DIODE-ARRAY METHOD WITH MAN-BETA(1-4)GLCNAC AS SUBSTRATE, International Journal of Biochemistry, 24(4), 1992, pp. 669-673
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