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La ricerca find articoli where authors phrase all words ' Dorland, L' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 34 riferimenti
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    1. Spaapen, LJM; Bakker, JA; Velter, C; Loots, W; Rubio-Gonzalbo, ME; Forget, PP; Dorland, L; De Koning, TJ; Poll-The, BT; Van Amstel, HKP; Bekhof, J; Blau, N; Duran, M
      Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

      JOURNAL OF INHERITED METABOLIC DISEASE
    2. Frenkel, J; Willemsen, MAAP; Weemaes, CMR; Dorland, L; Mayatepek, E
      Increased urinary leukotriene E-4 during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome

      ARCHIVES OF DISEASE IN CHILDHOOD
    3. Schollen, E; Dorland, L; de Koning, TJ; Van Diggelen, OP; Huijmans, JGM; Marquardt, T; Babovic-Vuksanovic, D; Patterson, M; Imtiaz, F; Winchester, B; Adamowicz, M; Pronicka, E; Freeze, H; Matthijs, G
      Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

      HUMAN MUTATION
    4. Aebi, M; Helenius, A; Schenk, B; Barone, R; Fiumara, A; Berger, EG; Hennet, T; Imbach, T; Stutz, A; Bjursell, C; Uller, A; Wahlstrom, JG; Briones, P; Cardo, E; Clayton, P; Winchester, B; Cormier-Daire, V; de Lonlay, P; Cuer, M; Dupre, T; Seta, N; de Koning, T; Dorland, L; de Loos, F; Kupers, L; Fabritz, L; Hasilik, M; Marquardt, T; Niehues, R; Freeze, H; Grunewald, S; Heykants, L; Jaeken, J; Matthijs, G; Schollen, E; Keir, G; Kjaergaard, S; Schwartz, M; Skovby, F; Klein, A; Roussel, P; Korner, C; Lubke, T; Thiel, C; von Figura, K; Koscielak, J; Krasnewich, D; Lehle, L; Peters, V; Raab, M; Saether, O; Schachter, H; Van Schaftingen, E; Verbert, A; Vilaseca, A; Wevers, R; Yamashita, K
      Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG

      GLYCOBIOLOGY
    5. de Koning, TJ; Nikkels, PGJ; Dorland, L; Bekhof, J; De Schrijver, JEAR; van Hattum, J; van Diggelen, OP; Duran, M; Barger, R; Poll-The, BT
      Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency

      VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
    6. de Koning, TJ; Duran, M; Dorland, L; Jakobs, C; Wevers, RA; Berger, R; Poll-The, BT
      Neurotransmitters in 8-phosphoglycerate dehydrogenase deficiency

      EUROPEAN JOURNAL OF PEDIATRICS
    7. Sjarif, DR; Dorland, L; Sperl, W; de Koning, TJ; Beemer, FA; Poll-The, BT; Duran, M
      Hyperketonaemia in glycerol kinase deficiency

      JOURNAL OF INHERITED METABOLIC DISEASE
    8. Poll-The, BT; Frenkel, J; Houten, SM; Kuis, W; Duran, M; De Koning, TJ; Dorland, L; De Barse, MMJ; Romeijn, GJ; Wanders, RJA; Waterham, HR
      Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome

      JOURNAL OF INHERITED METABOLIC DISEASE
    9. Roschinger, W; Muntau, AC; Duran, M; Dorland, L; IJlst, L; Wanders, RJA; Roscher, AA
      Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle

      CLINICA CHIMICA ACTA
    10. Houten, SM; Kuis, W; Duran, M; de Koning, TJ; van Royen-Kerkhof, A; Romeijn, GJ; Frenkel, J; Dorland, L; de Barse, MMJ; Huijbers, WAR; Rijkers, GT; Waterham, HR; Wanders, RJA; Poll-The, BT
      Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

      NATURE GENETICS
    11. de Koning, TJ; Dorland, L; Henegouwen, GPV
      Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy

      JOURNAL OF HEPATOLOGY
    12. POLLTHE BT; DEKONING TJ; DORLAND L; DURAN M
      PEROXISOMAL DISORDERS

      Neuroscience research communications
    13. DEKONING TJ; DURAN M; DORLAND L; GOOSKENS R; VANSCHAFTINGEN E; JAEKEN J; BLAU N; BERGER R; POLLTHE BT
      BENEFICIAL-EFFECTS OF L-SERINE AND GLYCINE IN THE MANAGEMENT OF SEIZURES IN 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY

      Annals of neurology
    14. DEKONING TJ; TOET M; DORLAND L; DEVRIES LS; VANDENBERG IET; DURAN M; POLLTHE BT
      RECURRENT NONIMMUNE HYDROPS-FETALIS ASSOCIATED WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

      Journal of inherited metabolic disease
    15. COSTA CG; DORLAND L; DEALMEIDA IT; JAKOBS C; DURAN M; POLLTHE BT
      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
    16. COSTA CG; DORLAND L; HOLWERDA U; DEALMEIDA IT; POLLTHE BT; JAKOBS C; DURAN M
      SIMULTANEOUS ANALYSIS OF PLASMA-FREE FATTY-ACIDS AND THEIR 3-HYDROXY ANALOGS IN FATTY-ACID BETA-OXIDATION DISORDERS

      Clinical chemistry
    17. DEKONING TJ; DORLAND L; VANDIGGELEN OP; BOONMAN AMC; DEJONG GJ; VANNOORT WL; DESCHRYVER J; DURAN M; VANDENBERG IET; GERWIG GJ; BERGER R; POLLTHE BT
      A NOVEL DISORDER OF N-GLYCOSYLATION DUE TO PHOSPHOMANNOSE ISOMERASE DEFICIENCY

      Biochemical and biophysical research communications
    18. WATERHAM HR; WIJBURG FA; HENNEKAM RCM; VREKEN P; POLLTHE BT; DORLAND L; DURAN M; JIRA PE; SMEITINK JAM; WEVERS RA; WANDERS RJA
      SMITH-LEMLI-OPITZ-SYNDROME IS CAUSED BY MUTATIONS IN THE 7-DEHYDROCHOLESTEROL REDUCTASE GENE

      American journal of human genetics
    19. 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
      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
    20. VENTURA FV; COSTA CG; IJLST L; DORLAND L; DURAN M; JAKOBS C; DEALMEIDA IT; WANDERS RJA
      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
    21. DURAN M; DORLAND L; MEULEMAN EEE; ALLERS P; BERGER R
      INHERITED DEFECTS OF PURINE AND PYRIMIDINE METABOLISM - LABORATORY METHODS FOR DIAGNOSIS

      Journal of inherited metabolic disease
    22. COSTA CG; STRUYS EA; BOOTSMA A; TENBRINK HJ; DORLAND L; DEALMEIDA IT; DURAN M; JAKOBS C
      QUANTITATIVE-ANALYSIS OF PLASMA ACYLCARNITINES USING GAS-CHROMATOGRAPHY CHEMICAL-IONIZATION MASS FRAGMENTOGRAPHY

      Journal of lipid research
    23. COSTA CCG; DORLAND L; KROON M; DEALMEIDA IT; JAKOBS C; DURAN M
      3-HYDROXYOCTANOIC, 6-HYDROXYOCTANOIC AND 7-HYDROXYOCTANOIC ACIDS ARE METABOLITES OF MEDIUM-CHAIN TRIGLYCERIDES AND EXCRETED IN URINE AS GLUCURONIDES

      Journal of mass spectrometry.
    24. BULLA M; KUWERTZBROKING E; FRUND S; DURAN M; DORLAND L; HARMS E
      THE SIGNIFICANCE OF THE ALANIN-GLYOXALATE -AMINOTRANSFERASE RESIDUAL ENZYME-ACTIVITY IN TREATMENT OF PRIMARY HYPEROXALURIA - REVIEW OF A FEW CASES

      Nieren- und Hochdruckkrankheiten
    25. DEKONING TJ; DURAN M; DORLAND L; BERGER R; POLLTHE BT
      MATERNAL 3-METHYLGLUTACONIC ACIDURIA ASSOCIATED WITH ABNORMALITIES INOFFSPRING

      Lancet
    26. BERGMAN AJIW; VANDERKNAAP MS; SMEITINK JAM; DURAN M; DORLAND L; VALK J; POLLTHE BT
      MAGNETIC-RESONANCE-IMAGING AND SPECTROSCOPY OF THE BRAIN IN PROPIONICACIDEMIA - CLINICAL AND BIOCHEMICAL CONSIDERATIONS

      Pediatric research
    27. DURAN M; DORLAND L; WADMAN SK; BERGER R
      GROUP TESTS FOR SELECTIVE SCREENING OF INBORN-ERRORS OF METABOLISM

      European journal of pediatrics
    28. DURAN M; DORLAND L; DEBREE PK; BERGER R
      SELECTIVE SCREENING FOR AMINO-ACID DISORDERS

      European journal of pediatrics
    29. FOURNIER B; SMEITINK JAM; DORLAND L; BERGER R; SAUDUBRAY JM; POLLTHE BT
      PEROXISOMAL DISORDERS - A REVIEW

      Journal of inherited metabolic disease
    30. JENESON JAL; VANDOBBENBURGH JO; VANECHTELD CJA; LEKKERKERK C; JANSSEN WJM; DORLAND L; BERGER R; BROWN TR
      EXPERIMENTAL-DESIGN OF P-31 MRS ASSESSMENT OF HUMAN FOREARM MUSCLE FUNCTION - RESTRICTIONS IMPOSED BY FUNCTIONAL-ANATOMY

      Magnetic resonance in medicine
    31. DURAN M; BAUMGARTNER ER; SUORMALA TM; BRUINVIS L; DORLAND L; SMEITINK JAM; POLLTHE BT
      CEREBROSPINAL-FLUID ORGANIC-ACIDS IN BIOTINIDASE DEFICIENCY

      Journal of inherited metabolic disease
    32. DORLAND L; POLLTHE BT; DURAN M; SMEITINK JAM; BERGER R
      PHENYLPYRUVATE, FETAL DAMAGE, AND MATERNAL PHENYLKETONURIA SYNDROME

      Lancet
    33. DURAN M; DORLAND L; KETTING D; DEBREE PK; BERGER R
      MASS-SPECTROMETRY AND INBORN-ERRORS OF METABOLISM - DIAGNOSTIC TRENDS

      Annales de biologie clinique
    34. VANPELT J; HOKKE CH; DORLAND L; DURAN M
      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


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/10/20 alle ore 07:51:26