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Results: 1-25 | 26-29
Results: 1-25/29
DEFECTIVE GALACTOSYLATION OF SERUM TRANSFERRIN IN GALACTOSEMIA
Authors: CHARLWOOD J CLAYTON P KEIR G MIAN N WINCHESTER B
Citation: J. Charlwood et al., DEFECTIVE GALACTOSYLATION OF SERUM TRANSFERRIN IN GALACTOSEMIA, Glycobiology, 8(4), 1998, pp. 351-357
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
Authors: CHARLWOOD J CLAYTON P KEIR G MIAN N YOUNG E WINCHESTER B
Citation: J. Charlwood et al., 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(7), 1998, pp. 693-699
A FUCOSIDOSIS PATIENT WITH RELATIVE LONGEVITY AND A MISSENSE MUTATIONIN EXON-7 OF THE ALPHA-FUCOSIDASE GENE
Authors: FLEMING CJ SINCLAIR DU WHITE EJ WINCHESTER B WHITEFORD ML CONNOR JM
Citation: Cj. Fleming et al., A FUCOSIDOSIS PATIENT WITH RELATIVE LONGEVITY AND A MISSENSE MUTATIONIN EXON-7 OF THE ALPHA-FUCOSIDASE GENE, Journal of inherited metabolic disease, 21(6), 1998, pp. 688-689
THE EFFECTS OF CALYSTEGINES ISOLATED FROM EDIBLE FRUITS AND VEGETABLES ON MAMMALIAN LIVER GLYCOSIDASES
Authors: ASANO N KATO A MATSUI K WATSON AA NASH RJ MOLYNEUX RJ HACKETT L TOPPING J WINCHESTER B
Citation: N. Asano et al., THE EFFECTS OF CALYSTEGINES ISOLATED FROM EDIBLE FRUITS AND VEGETABLES ON MAMMALIAN LIVER GLYCOSIDASES, Glycobiology, 7(8), 1997, pp. 1085-1088
A CASE OF THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1 (CDGS TYPE-1) WITH NORMAL PHOSPHOMANNOMUTASE ACTIVITY
Authors: CHARLWOOD J CLAYTON P JOHNSON A KEIR G MIAN N WINCHESTER B
Citation: J. Charlwood et al., A CASE OF THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1 (CDGS TYPE-1) WITH NORMAL PHOSPHOMANNOMUTASE ACTIVITY, Journal of inherited metabolic disease, 20(6), 1997, pp. 817-827
A NOVEL ACID ALPHA-GLUCOSIDASE MUTATION IDENTIFIED IN A PAKISTANI FAMILY WITH GLYCOGEN-STORAGE-DISEASE TYPE-II
Authors: KROOS MA WAITFIELD AE JOOSSE M WINCHESTER B REUSER AJJ MACDERMOT KD
Citation: Ma. Kroos et al., A NOVEL ACID ALPHA-GLUCOSIDASE MUTATION IDENTIFIED IN A PAKISTANI FAMILY WITH GLYCOGEN-STORAGE-DISEASE TYPE-II, Journal of inherited metabolic disease, 20(4), 1997, pp. 556-558
PLASMA CHITOTRIOSIDASE ACTIVITY IN GAUCHER-DISEASE PATIENTS WHO HAVE BEEN TREATED EITHER BY BONE-MARROW TRANSPLANTATION OR BY ENZYME REPLACEMENT THERAPY WITH ALGLUCERASE
Authors: YOUNG E CHATTERTON C VELLODI A WINCHESTER B
Citation: E. Young et al., 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, 20(4), 1997, pp. 595-602
PREVENTION OF LYSOSOMAL STORAGE IN TAY-SACHS MICE TREATED WITH N-BUTYLDEOXYNOJIRIMYCIN
Authors: PLATT FM NEISES GR REINKENSMEIER G TOWNSEND MJ PERRY VH PROIA RL WINCHESTER B DWEK RA BUTTERS TD
Citation: Fm. Platt et al., PREVENTION OF LYSOSOMAL STORAGE IN TAY-SACHS MICE TREATED WITH N-BUTYLDEOXYNOJIRIMYCIN, Science, 276(5311), 1997, pp. 428-431
FUCOSIDOSIS - GENETIC AND BIOCHEMICAL-ANALYSIS OF 8 CASES
Authors: CRAGG H WILLIAMSON M YOUNG E OBRIEN J ALHADEFF J FANGKIRCHER S PASCHKE E WINCHESTER B
Citation: H. Cragg et al., FUCOSIDOSIS - GENETIC AND BIOCHEMICAL-ANALYSIS OF 8 CASES, Journal of Medical Genetics, 34(2), 1997, pp. 105-110
BONE-MARROW TRANSPLANTATION FOR MUCOPOLYSACCHARIDOSIS TYPE-I - EXPERIENCE OF 2 BRITISH CENTERS
Authors: VELLODI A YOUNG EP COOPER A WRAITH JE WINCHESTER B MEANEY C RAMASWAMI U WILL A
Citation: A. Vellodi et al., BONE-MARROW TRANSPLANTATION FOR MUCOPOLYSACCHARIDOSIS TYPE-I - EXPERIENCE OF 2 BRITISH CENTERS, Archives of Disease in Childhood, 76(2), 1997, pp. 92-99
MUTATION ANALYSIS IN 20 PATIENTS WITH HUNTER-DISEASE
Authors: GOLDENFUM SL YOUNG E MICHELAKAKIS H TSAGARAKIS S WINCHESTER B
Citation: Sl. Goldenfum et al., MUTATION ANALYSIS IN 20 PATIENTS WITH HUNTER-DISEASE, Human mutation, 7(1), 1996, pp. 76-78
FABRY-DISEASE - 14 ALPHA-GALACTOSIDASE-A MUTATIONS IN UNRELATED FAMILIES FROM THE UNITED-KINGDOM AND OTHER EUROPEAN COUNTRIES
Authors: DAVIES JP ENG CM HILL JA MALCOLM S MACDERMOT K WINCHESTER B DESNICK RJ
Citation: Jp. Davies et al., FABRY-DISEASE - 14 ALPHA-GALACTOSIDASE-A MUTATIONS IN UNRELATED FAMILIES FROM THE UNITED-KINGDOM AND OTHER EUROPEAN COUNTRIES, European journal of human genetics, 4(4), 1996, pp. 219-224
THE IDENTIFICATION OF ABNORMAL GLYCOFORMS OF SERUM TRANSFERRIN IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I BY CAPILLARY ZONE ELECTROPHORESIS
Authors: IOURIN O MATTU TS MIAN N KEIR G WINCHESTER B DWEK RA RUDD PM
Citation: O. Iourin et al., THE IDENTIFICATION OF ABNORMAL GLYCOFORMS OF SERUM TRANSFERRIN IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I BY CAPILLARY ZONE ELECTROPHORESIS, Glycoconjugate journal, 13(6), 1996, pp. 1031-1042
A FLUOROMETRIC ENZYME ASSAY FOR THE DIAGNOSIS OF SANFILIPPO DISEASE TYPE-A (MPS IIIA)
Authors: KARPOVA EA VOZNYI YV KEULEMANS JLM HOOGEVEEN AT WINCHESTER B TSVETKOVA IV VANDIGGELEN OP
Citation: Ea. Karpova et al., A FLUOROMETRIC ENZYME ASSAY FOR THE DIAGNOSIS OF SANFILIPPO DISEASE TYPE-A (MPS IIIA), Journal of inherited metabolic disease, 19(3), 1996, pp. 278-285
SINGLE-BASE DELETION IN EXON-7 OF THE GLYCOSYLASPARAGINASE GENE CAUSES A MILD FORM OF ASPARTYLGLYCOSAMINURIA IN A PATIENT OF MAURITIAN ORIGIN
Authors: PARK H ROSSITER M FENSOM AH WINCHESTER B ARONSON NN
Citation: H. Park et al., 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, 19(1), 1996, pp. 76-83
A SPECIFIC PROTEIN FOUND IN HUMAN SENESCENT FIBROBLASTS
Authors: FAN QY FRANKEL HV PRESENT D WINCHESTER B
Citation: Qy. Fan et al., A SPECIFIC PROTEIN FOUND IN HUMAN SENESCENT FIBROBLASTS, Chinese medical journal, 108(2), 1995, pp. 105-108
THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - AN EXPERIMENT OF NATURE IN GLYCOSYLATION
Authors: WINCHESTER B CLAYTON P MIAN N DITOMASO E DELL A REASON A KEIR G
Citation: B. Winchester et al., THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - AN EXPERIMENT OF NATURE IN GLYCOSYLATION, Biochemical Society transactions, 23(1), 1995, pp. 185-188
ALLOGENEIC BONE-MARROW TRANSPLANTATION FOR FUCOSIDOSIS
Authors: VELLODI A CRAGG H WINCHESTER B YOUNG E YOUNG J DOWNIE CJC HOARE RD STOCKS R BANERJEE GK
Citation: A. Vellodi et al., ALLOGENEIC BONE-MARROW TRANSPLANTATION FOR FUCOSIDOSIS, Bone marrow transplantation, 15(1), 1995, pp. 153-158
PSEUDODEFICIENCY OF ARYLSULFATASE-A - STRATEGY FOR CLARIFICATION OF GENOTYPE IN FAMILIES OF SUBJECTS WITH LOW ASA ACTIVITY AND NEUROLOGICALSYMPTOMS
Authors: LEISTNER S YOUNG E MEANEY C WINCHESTER B
Citation: S. Leistner et al., PSEUDODEFICIENCY OF ARYLSULFATASE-A - STRATEGY FOR CLARIFICATION OF GENOTYPE IN FAMILIES OF SUBJECTS WITH LOW ASA ACTIVITY AND NEUROLOGICALSYMPTOMS, Journal of inherited metabolic disease, 18(6), 1995, pp. 710-716
DETECTION OF 8 NEW MUTATIONS IN THE ALPHA-GALACTOSIDASE-A GENE IN FABRY-DISEASE
Authors: DAVIES J CHRISTOMANOU H WINCHESTER B MALCOLM S
Citation: J. Davies et al., DETECTION OF 8 NEW MUTATIONS IN THE ALPHA-GALACTOSIDASE-A GENE IN FABRY-DISEASE, Human molecular genetics, 3(4), 1994, pp. 667-669
MAMMALIAN ALPHA-MANNOSIDASES-MULTIPLE FORMS BUT A COMMON PURPOSE
Authors: DANIEL PF WINCHESTER B WARREN CD
Citation: Pf. Daniel et al., MAMMALIAN ALPHA-MANNOSIDASES-MULTIPLE FORMS BUT A COMMON PURPOSE, Glycobiology, 4(5), 1994, pp. 551-566
MAMMALIAN ALPHA-MANNOSIDASES-MULTIPLE FORMS BUT A COMMON PURPOSE
Authors: DANIEL PF WINCHESTER B WARREN CD
Citation: Pf. Daniel et al., MAMMALIAN ALPHA-MANNOSIDASES-MULTIPLE FORMS BUT A COMMON PURPOSE, Glycobiology, 4(5), 1994, pp. 551-566
ARYLSULFATASE-A PSEUDODEFICIENCY - A COMMON POLYMORPHISM WHICH IS ASSOCIATED WITH A UNIQUE HAPLOTYPE
Authors: ZLOTOGORA J FURMANSHAHARABANI Y GOLDENFUM S WINCHESTER B VONFIGURA K GIESELMANN V
Citation: J. Zlotogora et al., ARYLSULFATASE-A PSEUDODEFICIENCY - A COMMON POLYMORPHISM WHICH IS ASSOCIATED WITH A UNIQUE HAPLOTYPE, American journal of medical genetics, 52(2), 1994, pp. 146-150
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
Authors: LUNDT I MADSEN R ALDAHER S WINCHESTER B
Citation: I. Lundt et al., 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, 50(25), 1994, pp. 7513-7520
MOLECULAR-BASIS OF THE COMMON ELECTROPHORETIC POLYMORPHISM (FU1 FU2) IN HUMAN ALPHA-L-FUCOSIDASE/
Authors: CRAGG H WINCHESTER B SEO HC OBRIEN J SWALLOW D
Citation: H. Cragg et al., MOLECULAR-BASIS OF THE COMMON ELECTROPHORETIC POLYMORPHISM (FU1 FU2) IN HUMAN ALPHA-L-FUCOSIDASE/, Journal of Medical Genetics, 31(8), 1994, pp. 659-660
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