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    1. Afman, LA; Van der Put, NMJ; Thomas, CMG; Trijbels, JMF; Blom, HJ
      Reduced vitamin B12 binding by transcobalamin II increases the risk of neural tube defects

      QJM-MONTHLY JOURNAL OF THE ASSOCIATION OF PHYSICIANS
    2. Van Buggenhout, GJCM; Trijbels, JMF; Wevers, R; Trommelen, JCM; Hamel, BCJ; Brunner, HG; Fryns, JP
      Metabolic studies in older mentally retarded patients: Significance of metabolic testing and correlation with the clinical phenotype

      GENETIC COUNSELING
    3. Niers, LEM; Smeitink, JAM; Trijbels, JMF; Sengers, RCA; Janssen, AJM; van den Heuvel, LP
      Prenatal diagnosis of NADH : ubiquinone oxidoreductase deficiency

      PRENATAL DIAGNOSIS
    4. Okhuijsen-Kroes, EJ; Trijbels, JMF; Sengers, RCA; Mariman, E; van den Heuvel, LP; Wendel, U; Koch, G; Smeitink, JAM
      Infantile presentation of the mtDNA A3243G tRNA(Leu(UUR)) mutation

      NEUROPEDIATRICS
    5. Markus, APJA; Swinkels, DW; Jakobs, BS; Wevers, RA; Trijbels, JMF; Willems, HL
      New technique for diagnosis and monitoring of alcaptonuria: quantificationof homogentisic acid in urine with mid-infrared spectrometry

      ANALYTICA CHIMICA ACTA
    6. Loeffen, JLCM; Smeitink, JAM; Trijbels, JMF; Janssen, AJM; Triepels, RH; Sengers, RCA; van den Heuvel, LP
      Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects

      HUMAN MUTATION
    7. Rubio-Gozalbo, ME; Sengers, RCA; Trijbels, JMF; Doesburg, WH; Janssen, AJM; Verbeek, ALM; Smeitink, JAM
      A prognostic index as diagnostic strategy in children suspected of mitochondriocytopathy

      NEUROPEDIATRICS
    8. Budde, SMS; van den Heuvel, LPWJ; Janssen, AJ; Smeets, RJP; Buskens, CAF; DeMeirleir, L; Van Coster, R; Baethmann, M; Voit, T; Trijbels, JMF; Smeitink, JAM
      Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    9. Rubio-Gozalbo, ME; Heerschap, A; Trijbels, JMF; De Meirleir, L; Thijssen, HOM; Smeitink, JAM
      Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency

      MAGNETIC RESONANCE IMAGING
    10. Triepels, RH; van den Heuvel, LP; Loeffen, JLCM; Buskens, CAF; Smeets, RJP; Gozalbo, MER; Budde, SMS; Mariman, EC; Wijburg, FA; Barth, PG; Trijbels, JMF; Smeitink, JAM
      Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

      ANNALS OF NEUROLOGY
    11. SMEITINK JAM; LOEFFEN JLCM; TRIEPELS RH; SMEETS RJP; TRIJBELS JMF; VANDENHEUVEL LP
      NUCLEAR GENES OF HUMAN COMPLEX I OF THE MITOCHONDRIAL ELECTRON-TRANSPORT CHAIN - STATE-OF-THE-ART

      Human molecular genetics (Print)
    12. RUBIOGOZALBO ME; RUITENBEEK W; WENDEL U; SENGERS RCA; TRIJBELS JMF; SMEITINK JAM
      SYSTEMIC INFANTILE COMPLEX-I DEFICIENCY WITH FATAL OUTCOME IN 2 BROTHERS

      Neuropediatrics
    13. HUIZING M; RUITENBEEK W; VANDENHEUVEL LP; DOLCE V; IACOBAZZI V; SMEITINK JAM; PALMIERI F; TRIJBELS JMF
      HUMAN MITOCHONDRIAL TRANSMEMBRANE METABOLITE CARRIERS - TISSUE DISTRIBUTION AND ITS IMPLICATION FOR MITOCHONDRIAL DISORDERS

      Journal of bioenergetics and biomembranes
    14. HUIZING M; WENDEL U; RUITENBEEK W; IACOBAZZI V; IJLST L; VEENHUIZEN P; SAVELKOUL P; VANDENHEUVEL LP; SMEITINK JAM; WANDERS RJA; TRIJBELS JMF; PALMIERI F
      CARNITINE-ACYLCARNITINE CARRIER DEFICIENCY - IDENTIFICATION OF THE MOLECULAR DEFECT IN A PATIENT

      Journal of inherited metabolic disease
    15. Loeffen, JLCM; Triepels, RH; van den Heuvel, LP; Schuelke, M; Buskens, CAF; Smeets, RJP; Trijbels, JMF; Smeitink, JAM
      cDNA of eight nuclear encoded subunits of NADH : ubiquinone oxidoreductase: Human complex I cDNA characterization completed

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    16. VANDERPUT NMJ; VANDERMOLEN EF; KLUIJTMANS LAJ; HEIL SG; TRIJBELS JMF; ESKES TKAB; VANOPPENRAAIJEMMERZAAL D; BANERJEE R; BLOM HJ
      SEQUENCE-ANALYSIS OF THE CODING REGION OF HUMAN METHIONINE SYNTHASE -RELEVANCE TO HYPERHOMOCYSTEINAEMIA IN NEURAL-TUBE DEFECTS AND VASCULAR-DISEASE

      Quarterly Journal of Medicine
    17. HUIZING M; RUITENBEEK W; DEPINTO V; THINNES F; TRIJBELS JMF; VANDENHEUVEL LP; SMEITINK JAM
      THE VOLTAGE-DEPENDENT ANION CHANNEL (VDAC) IN HUMAN MITOCHONDRIAL DISORDERS

      The FASEB journal
    18. RUITENBEEK W; HUIZING M; PALMIERI F; TRIJBELS JMF; VANDENHEUVEL LP; SMEITINK JAM
      INVOLVEMENT OF MITOCHONDRIAL-MEMBRANE CARRIERS IN HUMAN (ENCEPHALO-)MYOPATHIES

      The FASEB journal
    19. RUBIOGOZALBO ME; RUITENBEEK W; BENTLAGE HACM; SCHAGGER H; SENGERS RCA; TRIJBELS JMF; TERLAAK HJ; MARIMAN ECM; BAKKER MM; DEJAGER J; SMEITINK JAM
      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
    20. STOCKLER S; MARESCAU B; DEDEYN PP; TRIJBELS JMF; HANEFELD F
      GUANIDINO COMPOUNDS IN GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY,A NEW INBORN ERROR OF CREATINE SYNTHESIS

      Metabolism, clinical and experimental
    21. MOURMANS J; WENDEL U; BENTLAGE HACM; TRIJBELS JMF; SMEITINK JAM; DECOO IFM; GABREELS FJM; SENGERS RCA; RUITENBEEK W
      CLINICAL HETEROGENEITY IN RESPIRATORY-CHAIN COMPLEX-III DEFICIENCY INCHILDHOOD

      Journal of the neurological sciences
    22. GIESENDORF BAJ; VET JAM; TYAGI S; TRIJBELS JMF; BLOM HJ
      MOLECULAR BEACONS - A NEW APPROACH FOR THE SEMIAUTOMATED DETECTION OFTHE C677T MUTATION IN THE MTHFR GENE

      American journal of human genetics
    23. KEUZENKAMPJANSEN CW; LEEGWATER PAJ; DEABREU RA; LAMBOOY MAH; BOKKERINK JPM; TRIJBELS JMF
      THIOPURINE METHYLTRANSFERASE - A REVIEW AND A CLINICAL PILOT-STUDY

      Journal of chromatography B. Biomedical applications
    24. KEUZENKAMPJANSEN CW; DEABREU RA; BOKKERINK JPM; LAMBOOY MAH; TRIJBELS JMF
      METABOLISM OF INTRAVENOUSLY ADMINISTERED HIGH-DOSE 6-MERCAPTOPURINE WITH AND WITHOUT ALLOPURINOL TREATMENT IN PATIENTS WITH NON-HODGKIN-LYMPHOMA

      Journal of pediatric hematology/oncology
    25. CRUYSBERG JRM; BOERS GHJ; TRIJBELS JMF; DEUTMAN AF
      DELAY IN DIAGNOSIS OF HOMOCYSTINURIA - RETROSPECTIVE STUDY OF CONSECUTIVE PATIENTS

      BMJ. British medical journal
    26. RUITENBEEK W; WENDEL U; HAMEL BCJ; TRIJBELS JMF
      GENETIC-COUNSELING AND PRENATAL-DIAGNOSIS IN DISORDERS OF THE MITOCHONDRIAL ENERGY-METABOLISM

      Journal of inherited metabolic disease
    27. TRIJBELS JMF; RUITENBEEK W; SENGERS RCA; JANSSEN AJM; VANOOST BA
      BENIGN MITOCHONDRIAL ENCEPHALOMYOPATHY IN A PATIENT WITH COMPLEX-I DEFICIENCY

      Journal of inherited metabolic disease
    28. BENTLAGE HACM; WENDEL U; SCHAGGER H; TERLAAK HJ; JANSSEN AJM; TRIJBELS JMF
      LETHAL INFANTILE MITOCHONDRIAL DISEASE WITH ISOLATED COMPLEX-I DEFICIENCY IN FIBROBLASTS BUT WITH COMBINED COMPLEX-I AND COMPLEX-IV DEFICIENCIES IN MUSCLE

      Neurology
    29. KEUZENKAMPJANSEN CW; VANBAAL JM; DEABREU R; DEJONG JGN; ZUIDERENT R; TRIJBELS JMF
      DETECTION AND IDENTIFICATION OF 6-METHYLMERCAPTO-8-HYDROXYPURINE, A MAJOR METABOLITE OF 6-MERCAPTOPURINE, IN PLASMA DURING INTRAVENOUS ADMINISTRATION

      Clinical chemistry
    30. KEUZENKAMPJANSEN CW; DEABREU RA; BLOM HJ; BOKKERINK JPM; TRIJBELS JMF
      EFFECTS ON TRANSMETHYLATION BY HIGH-DOSE 6-MERCAPTOPURINE AND METHOTREXATE INFUSIONS DURING CONSOLIDATION TREATMENT OF ACUTE LYMPHOBLASTIC-LEUKEMIA

      Biochemical pharmacology
    31. KEUZENKAMPJANSEN CW; DEABREU RA; BOKKERINK JPM; TRIJBELS JMF
      DETERMINATION OF EXTRACELLULAR AND INTRACELLULAR THIOPURINES AND METHYLTHIOPURINES BY HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY

      Journal of chromatography B. Biomedical applications
    32. STET EH; DEABREU RA; BOKKERINK JPM; TRIJBELS JMF
      STUDIES ON 6-MERCAPTOPURINE CYTOTOXICITY IN MOLT F4 HUMAN-MALIGNANT T-LYMPHOBLASTS

      Nucleosides & nucleotides
    33. WENDEL U; RUITENBEEK W; BENTLAGE HACM; SENGERS RCA; TRIJBELS JMF
      NEONATAL DETONI-DEBRE-FANCONI-SYNDROME DUE TO A DEFECT IN COMPLEX-IIIOF THE RESPIRATORY-CHAIN

      European journal of pediatrics
    34. SCHOLTE HR; TRIJBELS JMF
      ISOLATED-MITOCHONDRIA FROM FROZEN MUSCLE HAVE LIMITED VALUE IN DIAGNOSTICS

      European journal of pediatrics
    35. KEUZENKAMPJANSEN CW; BOKKERINK JPM; DEABREU RA; TRIJBELS JMF
      HIGH-DOSE 6-MERCAPTOPURINE INFUSIONS AND TUMOR LYSIS SYNDROME

      Leukemia research
    36. VANAERTS LAGJM; POIROT CM; HERBERTS CA; BLOM HJ; DEABREU RA; TRIJBELS JMF; ESKES TKAB; PEEREBOOMSTEGEMAN JHJC; NOORDHOEK J
      DEVELOPMENT OF METHIONINE SYNTHASE, CYSTATHIONINE-BETA-SYNTHASE AND S-ADENOSYL-HOMOCYSTEINE HYDROLASE DURING GESTATION IN RATS

      Journal of Reproduction and Fertility
    37. BLOM HJ; KLEINVELD HA; BOERS GHJ; DEMACKER PNM; HAKLEMMERS HLM; POELEPOTHOFF MTWBT; TRIJBELS JMF
      LIPID-PEROXIDATION AND SUSCEPTIBILITY OF LOW-DENSITY-LIPOPROTEIN TO IN-VITRO OXIDATION IN HYPERHOMOCYSTEINAEMIA

      European journal of clinical investigation
    38. POELEPOTHOFF MTWBT; VANDENBERG M; FRANKEN DG; BOERS GHJ; JAKOBS C; DEKROON IFI; ESKES TKAB; TRIJBELS JMF; BLOM HJ
      3 DIFFERENT METHODS FOR THE DETERMINATION OF TOTAL HOMOCYSTEINE IN PLASMA

      Annals of clinical biochemistry
    39. FRANKEN DG; BOERS GHJ; BLOM HJ; TRIJBELS JMF
      EFFECT OF VARIOUS REGIMENS OF VITAMIN-B-6 AND FOLIC-ACID ON MILD HYPERHOMOCYSTEINAEMIA IN VASCULAR PATIENTS

      Journal of inherited metabolic disease
    40. SPERL W; TRIJBELS JMF; RUITENBEEK W; VANLAACK HLJM; JANSSEN AJM; KERKHOF CMC; SENGERS RCA
      MEASUREMENT OF TOTALLY ACTIVATED PYRUVATE-DEHYDROGENASE COMPLEX ACTIVITY IN HUMAN MUSCLE - EVALUATION OF A USEFUL ASSAY

      Enzyme & protein
    41. GERRITS GPJM; MONNENS LAH; GABREELS FJM; DEABREU RA; KOSTER A; TRIJBELS JMF
      CEREBROSPINAL-FLUID AMINO-ACIDS, PURINES AND PYRIMIDINES AS A TOOL INTHE STUDY OF METABOLIC BRAIN DISEASES

      Journal of inherited metabolic disease
    42. BLOM HJ; WEVERS RA; VERRIPS A; TEPOELEPOTHOFF MTWB; TRIJBELS JMF
      CEREBROSPINAL-FLUID HOMOCYSTEINE AND THE COBALAMIN STATUS OF THE BRAIN

      Journal of inherited metabolic disease
    43. DEVRIES DD; RUITENBEEK W; DEWIJS IJ; TRIJBELS JMF; VANOOST BA
      ENZYMOLOGICAL VERSUS DNA INVESTIGATIONS IN MITOCHONDRIAL (ENCEPHALO-)MYOPATHIES

      Journal of inherited metabolic disease


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/05/20 alle ore 22:21:27