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La ricerca find articoli where authors phrase all words ' Winchester, B' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 44 riferimenti
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    1. Mills, P; Mills, K; Clayton, P; Johnson, A; Whitehouse, D; Winchester, B
      Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation

      BIOCHEMICAL JOURNAL
    2. Whybra, C; Kampmann, C; Willers, I; Davies, J; Winchester, B; Kriegsmann, J; Bruhl, K; Gal, A; Bunge, S; Beck, M
      Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes

      JOURNAL OF INHERITED METABOLIC DISEASE
    3. Winchester, B
      Are there useful biochemical markers of disease activity in lysosomal storage diseases?

      JOURNAL OF INHERITED METABOLIC DISEASE
    4. Matthijs, G; Schollen, E; Bjursell, C; Erlandson, A; Freeze, H; Imtiaz, F; Kjaergaard, S; Martinsson, T; Schwartz, M; Seta, N; Vuillaumier-Barrot, S; Westphal, V; Winchester, B
      Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

      HUMAN MUTATION
    5. 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
    6. 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
    7. Winchester, B; Fleet, GWJ
      Modification of glycosylation as a therapeutic strategy

      JOURNAL OF CARBOHYDRATE CHEMISTRY
    8. Winchester, B; Vellodi, A; Young, E
      The molecular basis of lysosomal storage diseases and their treatment

      BIOCHEMICAL SOCIETY TRANSACTIONS
    9. Imtiaz, F; Worthington, V; Champion, M; Beesley, C; Charlwood, J; Clayton, P; Keir, G; Mian, N; Winchester, B
      Genotypes and phenotypes of patients in the UK with carbohydrate-deficientglycoprotein syndrome type 1

      JOURNAL OF INHERITED METABOLIC DISEASE
    10. Chang, MHY; Bindloss, CA; Grabowski, GA; Qi, XY; Winchester, B; Hopwood, JJ; Meikle, PJ
      Saposins A, B, C, and D in plasma of patients with lysosomal storage disorders

      CLINICAL CHEMISTRY
    11. Westphal, V; Murch, S; Kim, S; Srikrishna, G; Winchester, B; Day, R; Freeze, HH
      Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation

      AMERICAN JOURNAL OF PATHOLOGY
    12. van Diggelen, OP; Keulemans, JLM; Winchester, B; Hofman, IL; Vanhanen, SL; Santavuori, P; Voznyi, YV
      A rapid fluorogenic palmitoyl-protein thioesterase assay: Pre- and postnatal diagnosis of INCL

      MOLECULAR GENETICS AND METABOLISM
    13. Vellodi, A; Young, E; Cooper, A; Lidchi, V; Winchester, B; Wraith, JE
      Long-term follow-up following bone marrow transplantation for Hunter disease

      JOURNAL OF INHERITED METABOLIC DISEASE
    14. Winchester, B
      Outlook for screening for sphingolipidoses

      LANCET
    15. Voznyi, YV; Keulemans, JLM; Mancini, GMS; Catsman-Berrevoets, CE; Young, E; Winchester, B; Kleijer, WJ; van Diggelen, OP
      A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants

      JOURNAL OF MEDICAL GENETICS
    16. CHARLWOOD J; CLAYTON P; KEIR G; MIAN N; WINCHESTER B
      DEFECTIVE GALACTOSYLATION OF SERUM TRANSFERRIN IN GALACTOSEMIA

      Glycobiology
    17. CHARLWOOD J; CLAYTON P; KEIR G; MIAN N; YOUNG E; WINCHESTER B
      PRENATAL-DIAGNOSIS OF THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A (CDG1A) BY A COMBINATION OF ENZYMOLOGY AND GENETIC-LINKAGE ANALYSIS AFTER AMNIOCENTESIS OR CHORIONIC VILLUS SAMPLING

      Prenatal diagnosis
    18. FLEMING CJ; SINCLAIR DU; WHITE EJ; WINCHESTER B; WHITEFORD ML; CONNOR JM
      A FUCOSIDOSIS PATIENT WITH RELATIVE LONGEVITY AND A MISSENSE MUTATIONIN EXON-7 OF THE ALPHA-FUCOSIDASE GENE

      Journal of inherited metabolic disease
    19. ASANO N; KATO A; MATSUI K; WATSON AA; NASH RJ; MOLYNEUX RJ; HACKETT L; TOPPING J; WINCHESTER B
      THE EFFECTS OF CALYSTEGINES ISOLATED FROM EDIBLE FRUITS AND VEGETABLES ON MAMMALIAN LIVER GLYCOSIDASES

      Glycobiology
    20. CHARLWOOD J; CLAYTON P; JOHNSON A; KEIR G; MIAN N; WINCHESTER B
      A CASE OF THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1 (CDGS TYPE-1) WITH NORMAL PHOSPHOMANNOMUTASE ACTIVITY

      Journal of inherited metabolic disease
    21. KROOS MA; WAITFIELD AE; JOOSSE M; WINCHESTER B; REUSER AJJ; MACDERMOT KD
      A NOVEL ACID ALPHA-GLUCOSIDASE MUTATION IDENTIFIED IN A PAKISTANI FAMILY WITH GLYCOGEN-STORAGE-DISEASE TYPE-II

      Journal of inherited metabolic disease
    22. YOUNG E; CHATTERTON C; VELLODI A; WINCHESTER B
      PLASMA CHITOTRIOSIDASE ACTIVITY IN GAUCHER-DISEASE PATIENTS WHO HAVE BEEN TREATED EITHER BY BONE-MARROW TRANSPLANTATION OR BY ENZYME REPLACEMENT THERAPY WITH ALGLUCERASE

      Journal of inherited metabolic disease
    23. PLATT FM; NEISES GR; REINKENSMEIER G; TOWNSEND MJ; PERRY VH; PROIA RL; WINCHESTER B; DWEK RA; BUTTERS TD
      PREVENTION OF LYSOSOMAL STORAGE IN TAY-SACHS MICE TREATED WITH N-BUTYLDEOXYNOJIRIMYCIN

      Science
    24. CRAGG H; WILLIAMSON M; YOUNG E; OBRIEN J; ALHADEFF J; FANGKIRCHER S; PASCHKE E; WINCHESTER B
      FUCOSIDOSIS - GENETIC AND BIOCHEMICAL-ANALYSIS OF 8 CASES

      Journal of Medical Genetics
    25. VELLODI A; YOUNG EP; COOPER A; WRAITH JE; WINCHESTER B; MEANEY C; RAMASWAMI U; WILL A
      BONE-MARROW TRANSPLANTATION FOR MUCOPOLYSACCHARIDOSIS TYPE-I - EXPERIENCE OF 2 BRITISH CENTERS

      Archives of Disease in Childhood
    26. GOLDENFUM SL; YOUNG E; MICHELAKAKIS H; TSAGARAKIS S; WINCHESTER B
      MUTATION ANALYSIS IN 20 PATIENTS WITH HUNTER-DISEASE

      Human mutation
    27. DAVIES JP; ENG CM; HILL JA; MALCOLM S; MACDERMOT K; WINCHESTER B; DESNICK RJ
      FABRY-DISEASE - 14 ALPHA-GALACTOSIDASE-A MUTATIONS IN UNRELATED FAMILIES FROM THE UNITED-KINGDOM AND OTHER EUROPEAN COUNTRIES

      European journal of human genetics
    28. IOURIN O; MATTU TS; MIAN N; KEIR G; WINCHESTER B; DWEK RA; RUDD PM
      THE IDENTIFICATION OF ABNORMAL GLYCOFORMS OF SERUM TRANSFERRIN IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I BY CAPILLARY ZONE ELECTROPHORESIS

      Glycoconjugate journal
    29. KARPOVA EA; VOZNYI YV; KEULEMANS JLM; HOOGEVEEN AT; WINCHESTER B; TSVETKOVA IV; VANDIGGELEN OP
      A FLUOROMETRIC ENZYME ASSAY FOR THE DIAGNOSIS OF SANFILIPPO DISEASE TYPE-A (MPS IIIA)

      Journal of inherited metabolic disease
    30. PARK H; ROSSITER M; FENSOM AH; WINCHESTER B; ARONSON NN
      SINGLE-BASE DELETION IN EXON-7 OF THE GLYCOSYLASPARAGINASE GENE CAUSES A MILD FORM OF ASPARTYLGLYCOSAMINURIA IN A PATIENT OF MAURITIAN ORIGIN

      Journal of inherited metabolic disease
    31. FAN QY; FRANKEL HV; PRESENT D; WINCHESTER B
      A SPECIFIC PROTEIN FOUND IN HUMAN SENESCENT FIBROBLASTS

      Chinese medical journal
    32. WINCHESTER B; CLAYTON P; MIAN N; DITOMASO E; DELL A; REASON A; KEIR G
      THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - AN EXPERIMENT OF NATURE IN GLYCOSYLATION

      Biochemical Society transactions
    33. VELLODI A; CRAGG H; WINCHESTER B; YOUNG E; YOUNG J; DOWNIE CJC; HOARE RD; STOCKS R; BANERJEE GK
      ALLOGENEIC BONE-MARROW TRANSPLANTATION FOR FUCOSIDOSIS

      Bone marrow transplantation
    34. LEISTNER S; YOUNG E; MEANEY C; WINCHESTER B
      PSEUDODEFICIENCY OF ARYLSULFATASE-A - STRATEGY FOR CLARIFICATION OF GENOTYPE IN FAMILIES OF SUBJECTS WITH LOW ASA ACTIVITY AND NEUROLOGICALSYMPTOMS

      Journal of inherited metabolic disease
    35. DAVIES J; CHRISTOMANOU H; WINCHESTER B; MALCOLM S
      DETECTION OF 8 NEW MUTATIONS IN THE ALPHA-GALACTOSIDASE-A GENE IN FABRY-DISEASE

      Human molecular genetics
    36. DANIEL PF; WINCHESTER B; WARREN CD
      MAMMALIAN ALPHA-MANNOSIDASES-MULTIPLE FORMS BUT A COMMON PURPOSE

      Glycobiology
    37. DANIEL PF; WINCHESTER B; WARREN CD
      MAMMALIAN ALPHA-MANNOSIDASES-MULTIPLE FORMS BUT A COMMON PURPOSE

      Glycobiology
    38. ZLOTOGORA J; FURMANSHAHARABANI Y; GOLDENFUM S; WINCHESTER B; VONFIGURA K; GIESELMANN V
      ARYLSULFATASE-A PSEUDODEFICIENCY - A COMMON POLYMORPHISM WHICH IS ASSOCIATED WITH A UNIQUE HAPLOTYPE

      American journal of medical genetics
    39. LUNDT I; MADSEN R; ALDAHER S; WINCHESTER B
      DEOXYIMINOALDITOLS FROM ALDONOLACTONES .3. PREPARATION OF 1,4-DIDEOXY-1,4-IMINO-L-GULITOL - EVALUATION OF 1,4-DIDEOXY-1,4-IMINOHEXITOLS AS GLYCOSIDASE INHIBITORS

      Tetrahedron
    40. CRAGG H; WINCHESTER B; SEO HC; OBRIEN J; SWALLOW D
      MOLECULAR-BASIS OF THE COMMON ELECTROPHORETIC POLYMORPHISM (FU1 FU2) IN HUMAN ALPHA-L-FUCOSIDASE/

      Journal of Medical Genetics
    41. JUDGE MR; ATHERTON DJ; SALVAYRE R; HILAIRE N; LEVADE T; JOHNSTON DI; WINCHESTER B; LAKE BD
      NEUTRAL LIPID STORAGE DISEASE - CASE-REPORT AND LIPID STUDIES

      British journal of dermatology
    42. GOLDENFUM S; MALCOLM S; WINCHESTER B
      AN 8-BP DELETION IN EXON-B OF THE IDURONATE-2-SULFATE SULFATASE GENE IN A CASE OF HUNTER DISEASE

      Human molecular genetics
    43. GOLDENFUM S; MALCOLM S; YOUNG E; WINCHESTER B
      THE MOLECULAR-DETECTION OF THE PSEUDODEFICIENCY ALLELE FOR ARYLSULFATASE-A IN PATIENTS WITH NEUROLOGICAL SYMPTOMS AND LOW ARYLSULFATASE-A ACTIVITY

      Journal of inherited metabolic disease
    44. FURNEAUX RH; LYNCH GP; WAY G; WINCHESTER B
      SYNTHESIS OF 2-ACETAMIDO-1,2,4-TRIDEOXY-1,4-IMINO-D-GALACTITOL, A NEWHEXOSAMINIDASE INHIBITOR

      Tetrahedron letters


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Documento generato il 20/01/21 alle ore 19:36:55