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Results: 1-15 |
Results: 15
Analysis by matrix assisted laser desorption/ionisation-time of flight mass spectrometry of the post-translational modifications of alpha(1)-antitrypsin isoforms separated by two-dimensional polyacrylamide gel electrophoresis
Authors: Mills, PB Mills, K Johnson, AW Clayton, PT Winchester, BG
Citation: Pb. Mills et al., Analysis by matrix assisted laser desorption/ionisation-time of flight mass spectrometry of the post-translational modifications of alpha(1)-antitrypsin isoforms separated by two-dimensional polyacrylamide gel electrophoresis, PROTEOMICS, 1(6), 2001, pp. 778-786
Non-viral, integrin-mediated gene transfer into fibroblasts from patients with lysosomal storage diseases
Authors: Estruch, EJ Hart, SL Kinnon, C Winchester, BG
Citation: Ej. Estruch et al., Non-viral, integrin-mediated gene transfer into fibroblasts from patients with lysosomal storage diseases, J GENE MED, 3(5), 2001, pp. 488-497
Mutational analysis of 85 mucopolysaccharidosis type I families: frequencyof known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
Authors: Beesley, CE Meaney, CA Greenland, G Adams, V Vellodi, A Young, EP Winchester, BG
Citation: Ce. Beesley et al., Mutational analysis of 85 mucopolysaccharidosis type I families: frequencyof known mutations, identification of 17 novel mutations and in vitro expression of missense mutations, HUM GENET, 109(5), 2001, pp. 503-511
Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology
Authors: Mills, K Mills, PB Clayton, PT Johnson, AW Whitehouse, DB Winchester, BG
Citation: K. Mills et al., Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology, CLIN CHEM, 47(11), 2001, pp. 2012-2022
Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose
Authors: Hendriksz, CJ McClean, P Henderson, MJ Keir, DG Worthington, VC Imtiaz, F Schollen, E Matthijs, G Winchester, BG
Citation: Cj. Hendriksz et al., Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose, ARCH DIS CH, 85(4), 2001, pp. 339-340
A strategy for the identification of site-specific glycosylation in glycoproteins using MALDI TOF MS
Authors: Mills, K Johnson, AW Diettrich, O Clayton, PT Winchester, BG
Citation: K. Mills et al., A strategy for the identification of site-specific glycosylation in glycoproteins using MALDI TOF MS, TETRAHEDR-A, 11(1), 2000, pp. 75-93
Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi
Authors: Young, EP Winchester, BG Logan, WP Wheeler, RB Lake, BD
Citation: Ep. Young et al., Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi, PRENAT DIAG, 20(4), 2000, pp. 337-339
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations
Authors: Beesley, CE Young, EP Vellodi, A Winchester, BG
Citation: Ce. Beesley et al., Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations, J MED GENET, 37(9), 2000, pp. 704-707
G(M1)-gangliosidosis in a cross-bred dog confirmed by detection of G(M1)-ganglioside using electrospray ionisation-tandem mass spectrometry
Authors: Whitfield, P Johnson, AW Dunn, KA Delauche, AJN Winchester, BG Franklin, RJM
Citation: P. Whitfield et al., G(M1)-gangliosidosis in a cross-bred dog confirmed by detection of G(M1)-ganglioside using electrospray ionisation-tandem mass spectrometry, ACT NEUROP, 100(4), 2000, pp. 409-414
6R- and 6S-6C-Methylmannose from D-mannuronolactone. Inhibition of phosphoglucomutase and phosphomannomutase: agents for the study of the primary metabolism of mannose
Authors: Martin, A Watterson, MP Brown, AR Imtiaz, F Winchester, BG Watkin, DJ Fleet, GWJ
Citation: A. Martin et al., 6R- and 6S-6C-Methylmannose from D-mannuronolactone. Inhibition of phosphoglucomutase and phosphomannomutase: agents for the study of the primary metabolism of mannose, TETRAHEDR-A, 10(2), 1999, pp. 355-366
Classic late infantile NCL
Authors: Williams, RE Gottlob, I Lake, BD Goebel, HH Winchester, BG Wheeler, RB
Citation: Re. Williams et al., Classic late infantile NCL, BIOM HLTH R, 33, 1999, pp. 37-54
Tetrazoles of manno- and rhamno-pyranoses: Contrasting inhibition of mannosidases by [4.3.0] but of rhamnosidase by [3.3.0] bicyclic tetrazoles
Authors: Davis, BG Brandstetter, TW Hackett, L Winchester, BG Nash, RJ Watson, AA Griffiths, RC Smith, C Fleet, GWJ
Citation: Bg. Davis et al., Tetrazoles of manno- and rhamno-pyranoses: Contrasting inhibition of mannosidases by [4.3.0] but of rhamnosidase by [3.3.0] bicyclic tetrazoles, TETRAHEDRON, 55(14), 1999, pp. 4489-4500
Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation
Authors: Keir, G Winchester, BG Clayton, P
Citation: G. Keir et al., Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation, ANN CLIN BI, 36, 1999, pp. 20-36
Genomic screening for fucosidosis in English Springer Spaniels
Authors: Skelly, BJ Sargan, DR Winchester, BG Smith, MO Herrtage, ME Giger, U
Citation: Bj. Skelly et al., Genomic screening for fucosidosis in English Springer Spaniels, AM J VET RE, 60(6), 1999, pp. 726-729
Application of magnetic chromatography to the isolation of lysosomes from fibroblasts of patients with lysosomal storage disorders
Authors: Diettrich, O Mills, K Johnson, AW Hasilik, A Winchester, BG
Citation: O. Diettrich et al., Application of magnetic chromatography to the isolation of lysosomes from fibroblasts of patients with lysosomal storage disorders, FEBS LETTER, 441(3), 1998, pp. 369-372
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