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Results: 1-25 | 26-32
Results: 1-25/32
NUCLEAR GENES OF HUMAN COMPLEX I OF THE MITOCHONDRIAL ELECTRON-TRANSPORT CHAIN - STATE-OF-THE-ART
Authors: SMEITINK JAM LOEFFEN JLCM TRIEPELS RH SMEETS RJP TRIJBELS JMF VANDENHEUVEL LP
Citation: Jam. Smeitink et al., NUCLEAR GENES OF HUMAN COMPLEX I OF THE MITOCHONDRIAL ELECTRON-TRANSPORT CHAIN - STATE-OF-THE-ART, Human molecular genetics (Print), 7(10), 1998, pp. 1573-1579
SYSTEMIC INFANTILE COMPLEX-I DEFICIENCY WITH FATAL OUTCOME IN 2 BROTHERS
Authors: RUBIOGOZALBO ME RUITENBEEK W WENDEL U SENGERS RCA TRIJBELS JMF SMEITINK JAM
Citation: Me. Rubiogozalbo et al., SYSTEMIC INFANTILE COMPLEX-I DEFICIENCY WITH FATAL OUTCOME IN 2 BROTHERS, Neuropediatrics, 29(1), 1998, pp. 43-45
HUMAN MITOCHONDRIAL TRANSMEMBRANE METABOLITE CARRIERS - TISSUE DISTRIBUTION AND ITS IMPLICATION FOR MITOCHONDRIAL DISORDERS
Authors: HUIZING M RUITENBEEK W VANDENHEUVEL LP DOLCE V IACOBAZZI V SMEITINK JAM PALMIERI F TRIJBELS JMF
Citation: M. Huizing et al., HUMAN MITOCHONDRIAL TRANSMEMBRANE METABOLITE CARRIERS - TISSUE DISTRIBUTION AND ITS IMPLICATION FOR MITOCHONDRIAL DISORDERS, Journal of bioenergetics and biomembranes, 30(3), 1998, pp. 277-284
CARNITINE-ACYLCARNITINE CARRIER DEFICIENCY - IDENTIFICATION OF THE MOLECULAR DEFECT IN A PATIENT
Authors: HUIZING M WENDEL U RUITENBEEK W IACOBAZZI V IJLST L VEENHUIZEN P SAVELKOUL P VANDENHEUVEL LP SMEITINK JAM WANDERS RJA TRIJBELS JMF PALMIERI F
Citation: M. Huizing et al., CARNITINE-ACYLCARNITINE CARRIER DEFICIENCY - IDENTIFICATION OF THE MOLECULAR DEFECT IN A PATIENT, Journal of inherited metabolic disease, 21(3), 1998, pp. 262-267
SEQUENCE-ANALYSIS OF THE CODING REGION OF HUMAN METHIONINE SYNTHASE -RELEVANCE TO HYPERHOMOCYSTEINAEMIA IN NEURAL-TUBE DEFECTS AND VASCULAR-DISEASE
Authors: VANDERPUT NMJ VANDERMOLEN EF KLUIJTMANS LAJ HEIL SG TRIJBELS JMF ESKES TKAB VANOPPENRAAIJEMMERZAAL D BANERJEE R BLOM HJ
Citation: Nmj. Vanderput et al., SEQUENCE-ANALYSIS OF THE CODING REGION OF HUMAN METHIONINE SYNTHASE -RELEVANCE TO HYPERHOMOCYSTEINAEMIA IN NEURAL-TUBE DEFECTS AND VASCULAR-DISEASE, Quarterly Journal of Medicine, 90(8), 1997, pp. 511-517
THE VOLTAGE-DEPENDENT ANION CHANNEL (VDAC) IN HUMAN MITOCHONDRIAL DISORDERS
Authors: HUIZING M RUITENBEEK W DEPINTO V THINNES F TRIJBELS JMF VANDENHEUVEL LP SMEITINK JAM
Citation: M. Huizing et al., THE VOLTAGE-DEPENDENT ANION CHANNEL (VDAC) IN HUMAN MITOCHONDRIAL DISORDERS, The FASEB journal, 11(9), 1997, pp. 649-649
INVOLVEMENT OF MITOCHONDRIAL-MEMBRANE CARRIERS IN HUMAN (ENCEPHALO-)MYOPATHIES
Authors: RUITENBEEK W HUIZING M PALMIERI F TRIJBELS JMF VANDENHEUVEL LP SMEITINK JAM
Citation: W. Ruitenbeek et al., INVOLVEMENT OF MITOCHONDRIAL-MEMBRANE CARRIERS IN HUMAN (ENCEPHALO-)MYOPATHIES, The FASEB journal, 11(9), 1997, pp. 650-650
FAVORABLE CLINICAL COURSE IN AN INFANT WITH SEVERE DEFICIENCY OF COMPLEX-III OF THE RESPIRATORY-CHAIN COMBINED WITH LESS SEVERE DEFICIENCIES OF COMPLEX-I, COMPLEX-II AND COMPLEX-IV
Authors: RUBIOGOZALBO ME RUITENBEEK W BENTLAGE HACM SCHAGGER H SENGERS RCA TRIJBELS JMF TERLAAK HJ MARIMAN ECM BAKKER MM DEJAGER J SMEITINK JAM
Citation: Me. Rubiogozalbo et al., FAVORABLE CLINICAL COURSE IN AN INFANT WITH SEVERE DEFICIENCY OF COMPLEX-III OF THE RESPIRATORY-CHAIN COMBINED WITH LESS SEVERE DEFICIENCIES OF COMPLEX-I, COMPLEX-II AND COMPLEX-IV, European journal of pediatrics, 156(12), 1997, pp. 931-934
GUANIDINO COMPOUNDS IN GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY,A NEW INBORN ERROR OF CREATINE SYNTHESIS
Authors: STOCKLER S MARESCAU B DEDEYN PP TRIJBELS JMF HANEFELD F
Citation: S. Stockler et al., GUANIDINO COMPOUNDS IN GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY,A NEW INBORN ERROR OF CREATINE SYNTHESIS, Metabolism, clinical and experimental, 46(10), 1997, pp. 1189-1193
CLINICAL HETEROGENEITY IN RESPIRATORY-CHAIN COMPLEX-III DEFICIENCY INCHILDHOOD
Authors: MOURMANS J WENDEL U BENTLAGE HACM TRIJBELS JMF SMEITINK JAM DECOO IFM GABREELS FJM SENGERS RCA RUITENBEEK W
Citation: J. Mourmans et al., CLINICAL HETEROGENEITY IN RESPIRATORY-CHAIN COMPLEX-III DEFICIENCY INCHILDHOOD, Journal of the neurological sciences, 149(1), 1997, pp. 111-117
MOLECULAR BEACONS - A NEW APPROACH FOR THE SEMIAUTOMATED DETECTION OFTHE C677T MUTATION IN THE MTHFR GENE
Authors: GIESENDORF BAJ VET JAM TYAGI S TRIJBELS JMF BLOM HJ
Citation: Baj. Giesendorf et al., MOLECULAR BEACONS - A NEW APPROACH FOR THE SEMIAUTOMATED DETECTION OFTHE C677T MUTATION IN THE MTHFR GENE, American journal of human genetics, 61(4), 1997, pp. 1275-1275
THIOPURINE METHYLTRANSFERASE - A REVIEW AND A CLINICAL PILOT-STUDY
Authors: KEUZENKAMPJANSEN CW LEEGWATER PAJ DEABREU RA LAMBOOY MAH BOKKERINK JPM TRIJBELS JMF
Citation: Cw. Keuzenkampjansen et al., THIOPURINE METHYLTRANSFERASE - A REVIEW AND A CLINICAL PILOT-STUDY, Journal of chromatography B. Biomedical applications, 678(1), 1996, pp. 15-22
METABOLISM OF INTRAVENOUSLY ADMINISTERED HIGH-DOSE 6-MERCAPTOPURINE WITH AND WITHOUT ALLOPURINOL TREATMENT IN PATIENTS WITH NON-HODGKIN-LYMPHOMA
Authors: KEUZENKAMPJANSEN CW DEABREU RA BOKKERINK JPM LAMBOOY MAH TRIJBELS JMF
Citation: Cw. Keuzenkampjansen et al., METABOLISM OF INTRAVENOUSLY ADMINISTERED HIGH-DOSE 6-MERCAPTOPURINE WITH AND WITHOUT ALLOPURINOL TREATMENT IN PATIENTS WITH NON-HODGKIN-LYMPHOMA, Journal of pediatric hematology/oncology, 18(2), 1996, pp. 145-150
DELAY IN DIAGNOSIS OF HOMOCYSTINURIA - RETROSPECTIVE STUDY OF CONSECUTIVE PATIENTS
Authors: CRUYSBERG JRM BOERS GHJ TRIJBELS JMF DEUTMAN AF
Citation: Jrm. Cruysberg et al., DELAY IN DIAGNOSIS OF HOMOCYSTINURIA - RETROSPECTIVE STUDY OF CONSECUTIVE PATIENTS, BMJ. British medical journal, 313(7064), 1996, pp. 1037-1040
GENETIC-COUNSELING AND PRENATAL-DIAGNOSIS IN DISORDERS OF THE MITOCHONDRIAL ENERGY-METABOLISM
Authors: RUITENBEEK W WENDEL U HAMEL BCJ TRIJBELS JMF
Citation: W. Ruitenbeek et al., GENETIC-COUNSELING AND PRENATAL-DIAGNOSIS IN DISORDERS OF THE MITOCHONDRIAL ENERGY-METABOLISM, Journal of inherited metabolic disease, 19(4), 1996, pp. 581-587
BENIGN MITOCHONDRIAL ENCEPHALOMYOPATHY IN A PATIENT WITH COMPLEX-I DEFICIENCY
Authors: TRIJBELS JMF RUITENBEEK W SENGERS RCA JANSSEN AJM VANOOST BA
Citation: Jmf. Trijbels et al., BENIGN MITOCHONDRIAL ENCEPHALOMYOPATHY IN A PATIENT WITH COMPLEX-I DEFICIENCY, Journal of inherited metabolic disease, 19(2), 1996, pp. 149-152
LETHAL INFANTILE MITOCHONDRIAL DISEASE WITH ISOLATED COMPLEX-I DEFICIENCY IN FIBROBLASTS BUT WITH COMBINED COMPLEX-I AND COMPLEX-IV DEFICIENCIES IN MUSCLE
Authors: BENTLAGE HACM WENDEL U SCHAGGER H TERLAAK HJ JANSSEN AJM TRIJBELS JMF
Citation: Hacm. Bentlage et al., LETHAL INFANTILE MITOCHONDRIAL DISEASE WITH ISOLATED COMPLEX-I DEFICIENCY IN FIBROBLASTS BUT WITH COMBINED COMPLEX-I AND COMPLEX-IV DEFICIENCIES IN MUSCLE, Neurology, 47(1), 1996, pp. 243-248
DETECTION AND IDENTIFICATION OF 6-METHYLMERCAPTO-8-HYDROXYPURINE, A MAJOR METABOLITE OF 6-MERCAPTOPURINE, IN PLASMA DURING INTRAVENOUS ADMINISTRATION
Authors: KEUZENKAMPJANSEN CW VANBAAL JM DEABREU R DEJONG JGN ZUIDERENT R TRIJBELS JMF
Citation: Cw. Keuzenkampjansen et al., DETECTION AND IDENTIFICATION OF 6-METHYLMERCAPTO-8-HYDROXYPURINE, A MAJOR METABOLITE OF 6-MERCAPTOPURINE, IN PLASMA DURING INTRAVENOUS ADMINISTRATION, Clinical chemistry, 42(3), 1996, pp. 380-386
EFFECTS ON TRANSMETHYLATION BY HIGH-DOSE 6-MERCAPTOPURINE AND METHOTREXATE INFUSIONS DURING CONSOLIDATION TREATMENT OF ACUTE LYMPHOBLASTIC-LEUKEMIA
Authors: KEUZENKAMPJANSEN CW DEABREU RA BLOM HJ BOKKERINK JPM TRIJBELS JMF
Citation: Cw. Keuzenkampjansen et al., EFFECTS ON TRANSMETHYLATION BY HIGH-DOSE 6-MERCAPTOPURINE AND METHOTREXATE INFUSIONS DURING CONSOLIDATION TREATMENT OF ACUTE LYMPHOBLASTIC-LEUKEMIA, Biochemical pharmacology, 51(9), 1996, pp. 1165-1171
DETERMINATION OF EXTRACELLULAR AND INTRACELLULAR THIOPURINES AND METHYLTHIOPURINES BY HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY
Authors: KEUZENKAMPJANSEN CW DEABREU RA BOKKERINK JPM TRIJBELS JMF
Citation: Cw. Keuzenkampjansen et al., DETERMINATION OF EXTRACELLULAR AND INTRACELLULAR THIOPURINES AND METHYLTHIOPURINES BY HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY, Journal of chromatography B. Biomedical applications, 672(1), 1995, pp. 53-61
STUDIES ON 6-MERCAPTOPURINE CYTOTOXICITY IN MOLT F4 HUMAN-MALIGNANT T-LYMPHOBLASTS
Authors: STET EH DEABREU RA BOKKERINK JPM TRIJBELS JMF
Citation: Eh. Stet et al., STUDIES ON 6-MERCAPTOPURINE CYTOTOXICITY IN MOLT F4 HUMAN-MALIGNANT T-LYMPHOBLASTS, Nucleosides & nucleotides, 14(3-5), 1995, pp. 665-669
NEONATAL DETONI-DEBRE-FANCONI-SYNDROME DUE TO A DEFECT IN COMPLEX-IIIOF THE RESPIRATORY-CHAIN
Authors: WENDEL U RUITENBEEK W BENTLAGE HACM SENGERS RCA TRIJBELS JMF
Citation: U. Wendel et al., NEONATAL DETONI-DEBRE-FANCONI-SYNDROME DUE TO A DEFECT IN COMPLEX-IIIOF THE RESPIRATORY-CHAIN, European journal of pediatrics, 154(11), 1995, pp. 915-918
ISOLATED-MITOCHONDRIA FROM FROZEN MUSCLE HAVE LIMITED VALUE IN DIAGNOSTICS
Authors: SCHOLTE HR TRIJBELS JMF
Citation: Hr. Scholte et Jmf. Trijbels, ISOLATED-MITOCHONDRIA FROM FROZEN MUSCLE HAVE LIMITED VALUE IN DIAGNOSTICS, European journal of pediatrics, 154(1), 1995, pp. 80-80
HIGH-DOSE 6-MERCAPTOPURINE INFUSIONS AND TUMOR LYSIS SYNDROME
Authors: KEUZENKAMPJANSEN CW BOKKERINK JPM DEABREU RA TRIJBELS JMF
Citation: Cw. Keuzenkampjansen et al., HIGH-DOSE 6-MERCAPTOPURINE INFUSIONS AND TUMOR LYSIS SYNDROME, Leukemia research, 19(7), 1995, pp. 489-490
DEVELOPMENT OF METHIONINE SYNTHASE, CYSTATHIONINE-BETA-SYNTHASE AND S-ADENOSYL-HOMOCYSTEINE HYDROLASE DURING GESTATION IN RATS
Authors: VANAERTS LAGJM POIROT CM HERBERTS CA BLOM HJ DEABREU RA TRIJBELS JMF ESKES TKAB PEEREBOOMSTEGEMAN JHJC NOORDHOEK J
Citation: Lagjm. Vanaerts et al., DEVELOPMENT OF METHIONINE SYNTHASE, CYSTATHIONINE-BETA-SYNTHASE AND S-ADENOSYL-HOMOCYSTEINE HYDROLASE DURING GESTATION IN RATS, Journal of Reproduction and Fertility, 103(2), 1995, pp. 227-232
Risultati: 1-25 | 26-32