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Results: 1-15 |
Results: 15
THE 35TH ANNUAL SYMPOSIUM OF THE SSIEM - GOTEBORG 1997 - PREFACE
Authors: HOME E POLLITT RJ BESLEY GTN BROWN GK HOFFMANN GF
Citation: E. Home et al., THE 35TH ANNUAL SYMPOSIUM OF THE SSIEM - GOTEBORG 1997 - PREFACE, Journal of inherited metabolic disease, 21(5), 1998, pp. 453-454
REFSUM-DISEASE IS CAUSED BY MUTATIONS IN THE PHYTANOYL-COA HYDROXYLASE GENE
Authors: JANSEN GA FERDINANDUSSE S IJLST L MUIJSERS AO SKJELDAL OH STOKKE O JAKOBS C BESLEY GTN WRAITH JE WANDERS RJA
Citation: Ga. Jansen et al., REFSUM-DISEASE IS CAUSED BY MUTATIONS IN THE PHYTANOYL-COA HYDROXYLASE GENE, Nature genetics, 17(2), 1997, pp. 190-193
THE 34TH ANNUAL SYMPOSIUM OF THE SSIEM - CARDIFF 1996 - PREFACE
Authors: SHORTLAND GJ POLLITT RJ BESLEY GTN BROWN GK HOFFMANN GF
Citation: Gj. Shortland et al., THE 34TH ANNUAL SYMPOSIUM OF THE SSIEM - CARDIFF 1996 - PREFACE, Journal of inherited metabolic disease, 20(2), 1997, pp. 111-112
THE 33RD ANNUAL SYMPOSIUM OF THE SSIEM - TOLEDO 1995 - PREFACE
Authors: UGARTE M POLLITT RJ ADDISON GM BESLEY GTN BROWN GK
Citation: M. Ugarte et al., THE 33RD ANNUAL SYMPOSIUM OF THE SSIEM - TOLEDO 1995 - PREFACE, Journal of inherited metabolic disease, 19(4), 1996, pp. 389-390
LONG-TERM IN-VITRO CORRECTION OF ALPHA-L-IDURONIDASE DEFICIENCY (HURLER-SYNDROME) IN HUMAN BONE-MARROW
Authors: FAIRBAIRN LJ LASHFORD LS SPOONCER E MCDERMOTT RH LEBENS G ARRAND JE ARRAND JR BELLANTUONO I HOLT R HATTON CE COOPER A BESLEY GTN WRAITH JE ANSON DS HOPWOOD JJ DEXTER TM
Citation: Lj. Fairbairn et al., LONG-TERM IN-VITRO CORRECTION OF ALPHA-L-IDURONIDASE DEFICIENCY (HURLER-SYNDROME) IN HUMAN BONE-MARROW, Proceedings of the National Academy of Sciences of the United Statesof America, 93(5), 1996, pp. 2025-2030
COMMON MCAD MUTATION IN A HEALTHY PARENT OF 2 AFFECTED SIBLINGS
Authors: HEPTINSTALL LE TILL J WRAITH JE BESLEY GTN
Citation: Le. Heptinstall et al., COMMON MCAD MUTATION IN A HEALTHY PARENT OF 2 AFFECTED SIBLINGS, Journal of inherited metabolic disease, 18(5), 1995, pp. 638-639
THE 32ND ANNUAL SYMPOSIUM OF THE SSIEM - EDINBURGH 1994 - PREFACE
Authors: KIRK JM POLLITT RJ ADDISON GM BESLEY GTN BROWN GK
Citation: Jm. Kirk et al., THE 32ND ANNUAL SYMPOSIUM OF THE SSIEM - EDINBURGH 1994 - PREFACE, Journal of inherited metabolic disease, 18(4), 1995, pp. 373-374
PREFACE TO SHORT COMMUNICATIONS
Authors: ADDISON GM BESLEY GTN BROWN GK
Citation: Gm. Addison et al., PREFACE TO SHORT COMMUNICATIONS, Journal of inherited metabolic disease, 18(2), 1995, pp. 105-105
MITOCHONDRIAL COMPLEX DEFICIENCIES IN A MALE WITH CARDIOMYOPATHY AND 3-METHYLGLUTACONIC ACIDURIA
Authors: BESLEY GTN LENDON M BROADHEAD DM TILL J HEPTINSTALL LE PHILLIPS B
Citation: Gtn. Besley et al., MITOCHONDRIAL COMPLEX DEFICIENCIES IN A MALE WITH CARDIOMYOPATHY AND 3-METHYLGLUTACONIC ACIDURIA, Journal of inherited metabolic disease, 18(2), 1995, pp. 221-223
THE 31ST ANNUAL SYMPOSIUM OF THE SSIEM - MANCHESTER 1993
Authors: BESLEY GTN ADDISON GM HARKNESS RA POLLITT RJ
Citation: Gtn. Besley et al., THE 31ST ANNUAL SYMPOSIUM OF THE SSIEM - MANCHESTER 1993, Journal of inherited metabolic disease, 17(4), 1994, pp. 381-382
SHORT COMMUNICATIONS - INCLUDING WORKSHOP ON THE PHENYLALANINE-HYDROXYLASE GENE - PREFACE
Authors: ADDISON GM BESLEY GTN HARKNESS RA POLLITT RJ
Citation: Gm. Addison et al., SHORT COMMUNICATIONS - INCLUDING WORKSHOP ON THE PHENYLALANINE-HYDROXYLASE GENE - PREFACE, Journal of inherited metabolic disease, 17(3), 1994, pp. 257-257
FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY - SEVERE PHENOTYPE WITH NORMALLEUKOCYTE ENZYME-ACTIVITY
Authors: BESLEY GTN WALTER JH LEWIS MA CHARD CR ADDISON GM
Citation: Gtn. Besley et al., FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY - SEVERE PHENOTYPE WITH NORMALLEUKOCYTE ENZYME-ACTIVITY, Journal of inherited metabolic disease, 17(3), 1994, pp. 333-335
ISOLATION AND CHARACTERIZATION OF HUMAN GLYCEROL KINASE TRANSCRIPTS -IDENTIFICATION OF LOCI AT XP22.1-]P21.2 AND XQ22-]Q23
Authors: SARGENT CA AFFARA NA BENTLEY E PELMEAR A BAILEY DMD DAVEY P DOW D LEVERSHA M APLIN H BESLEY GTN FERGUSONSMITH MA
Citation: Ca. Sargent et al., ISOLATION AND CHARACTERIZATION OF HUMAN GLYCEROL KINASE TRANSCRIPTS -IDENTIFICATION OF LOCI AT XP22.1-]P21.2 AND XQ22-]Q23, Cytogenetics and cell genetics, 64(3-4), 1993, pp. 186-187
THE 30TH ANNUAL SYMPOSIUM OF THE SSIEM - LEUVEN, 1992 - PREFACE
Authors: HARKNESS RA JAEKEN J ADDISON GM BESLEY GTN POLLITT RJ
Citation: Ra. Harkness et al., THE 30TH ANNUAL SYMPOSIUM OF THE SSIEM - LEUVEN, 1992 - PREFACE, Journal of inherited metabolic disease, 16(4), 1993, pp. 613-613
PROCEEDINGS OF THE 4TH INTERNATIONAL-SYMPOSIUM ON THE NEURONAL CEROID-LIPOFUSCINOSES (BATTEN-DISEASE)
Authors: BESLEY GTN GARDINER RM
Citation: Gtn. Besley et Rm. Gardiner, PROCEEDINGS OF THE 4TH INTERNATIONAL-SYMPOSIUM ON THE NEURONAL CEROID-LIPOFUSCINOSES (BATTEN-DISEASE), Journal of inherited metabolic disease, 16(2), 1993, pp. 225-225
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