نتائج البحث - "Winchester, B G"

1

Academic Journal

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

المؤلفون: Schollen, E, Frank, C G, Keldermans, L, Reyntjens, R, Grubenmann, C E, Clayton, P T, Winchester, B G, Smeitink, J, Wevers, R A, Aebi, M, Hennet, T, Matthijs, G

مصطلحات موضوعية: Letters to JMG

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/41/7/550; http://dx.doi.org/10.1136/jmg.2003.016923

الاتاحة: http://jmg.bmj.com/cgi/content/short/41/7/550
https://doi.org/10.1136/jmg.2003.016923

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2

Academic Journal

Carbohydrate-Deficient Glycoprotein Syndromes: Inborn Errors of Protein Glycosylation

المؤلفون: Keir, G, Winchester, B G, Clayton, P

المصدر: Annals of Clinical Biochemistry: International Journal of Laboratory Medicine ; volume 36, issue 1, page 20-36 ; ISSN 0004-5632 1758-1001

الاتاحة: https://doi.org/10.1177/000456329903600103
https://journals.sagepub.com/doi/pdf/10.1177/000456329903600103

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3

Academic Journal

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

المؤلفون: Beesley, C E, Young, E P, Vellodi, A, Winchester, B G

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/35/11/910; http://dx.doi.org/10.1136/jmg.35.11.910

الاتاحة: http://jmg.bmj.com/cgi/content/short/35/11/910
https://doi.org/10.1136/jmg.35.11.910

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4

Academic Journal

The molecular defect underlying canine fucosidosis.

المؤلفون: Skelly, B J, Sargan, D R, Herrtage, M E, Winchester, B G

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/33/4/284; http://dx.doi.org/10.1136/jmg.33.4.284

الاتاحة: http://jmg.bmj.com/cgi/content/short/33/4/284
https://doi.org/10.1136/jmg.33.4.284

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5

Academic Journal

Sequence variations in the first exon of alpha-galactosidase A.

المؤلفون: Davies, J P, Winchester, B G, Malcolm, S

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/30/8/658; http://dx.doi.org/10.1136/jmg.30.8.658

الاتاحة: http://jmg.bmj.com/cgi/content/short/30/8/658
https://doi.org/10.1136/jmg.30.8.658

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6

Academic Journal

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates

المؤلفون: van Diggelen, O. P., Oemardien, L. F., van der Beek, N. A. M. E., Kroos, M. A., Wind, H. K., Voznyi, Y. V., Burke, D., Jackson, M., Winchester, B. G., Reuser, A. J. J.

المصدر: Journal of Inherited Metabolic Disease ; volume 32, issue 3, page 416-423 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1007/s10545-009-1082-3
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-009-1082-3

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7

Academic Journal

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)

المؤلفون: Beesley, C. E., Jackson, M., Young, E. P., Vellodi, A., Winchester, B. G.

المصدر: Journal of Inherited Metabolic Disease ; volume 28, issue 5, page 759-767 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1007/s10545-005-0093-y
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-005-0093-y

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8

Academic Journal

Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx

المؤلفون: Mills, P. B., Mills, K., Mian, N., Winchester, B. G., Clayton, P. T.

المصدر: Journal of Inherited Metabolic Disease ; volume 26, issue 2-3, page 119-134 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1023/a:1024476915278
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1023%2FA%3A1024476915278
https://onlinelibrary.wiley.com/doi/pdf/10.1023/A%3A1024476915278

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9

Academic Journal

Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose

المؤلفون: Hendriksz, C J, McClean, P, Henderson, M J, Keir, D G, Worthington, V C, Imtiaz, F, Schollen, E, Matthijs, Gert, Winchester, B G

مصطلحات موضوعية: Administration, Oral, Carbohydrate-Deficient Glycoprotein Syndrome, Electrophoresis, Agar Gel, Female, Homozygote, Humans, Infant, Mannose, Mannose-6-Phosphate Isomerase, Mutation, Research Support, Non-U.S. Gov't, Transferrin

Relation: Archives of Disease in Childhood vol:85 issue:4 pages:339-40; https://lirias.kuleuven.be/handle/123456789/7997; http://adc.bmjjournals.com/cgi/pmidlookup?view=long&pmid=11567948

الاتاحة: https://lirias.kuleuven.be/handle/123456789/7997
http://adc.bmjjournals.com/cgi/pmidlookup?view=long&pmid=11567948

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10

Academic Journal

G M1 -gangliosidosis in a cross-bred dog confirmed by detection of G M1 -ganglioside using electrospray ionisation-tandem mass spectrometry

المؤلفون: Whitfield, P., Johnson, A. W., Dunn, K. A., Delauche, A. J. N., Winchester, B. G., Franklin, R. J. M.

المصدر: Acta Neuropathologica ; volume 100, issue 4, page 409-414 ; ISSN 0001-6322 1432-0533

الاتاحة: http://dx.doi.org/10.1007/s004010000187
http://link.springer.com/content/pdf/10.1007/s004010000187.pdf
http://link.springer.com/article/10.1007/s004010000187/fulltext.html
http://link.springer.com/content/pdf/10.1007/s004010000187

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11

Academic Journal

ChemInform Abstract: (6R)‐, and (6S)‐6‐C‐Methylglucose from D‐Glucuronolactone: Efficient Synthesis of a Seven Carbon Fucose Analogue: Inhibition of Some Enzymes of Primary Metabolism.

المؤلفون: BLERIOT, Y., MASAGUER, C. F., CHARLWOOD, J., WINCHESTER, B. G., LANE, A. L., CROOK, S., WATKIN, D. J., FLEET, G. W. J.

المصدر: ChemInform ; volume 29, issue 7 ; ISSN 0931-7597 1522-2667

الاتاحة: http://dx.doi.org/10.1002/chin.199807229
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fchin.199807229
https://onlinelibrary.wiley.com/doi/pdf/10.1002/chin.199807229

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12

Academic Journal

ChemInform Abstract: 6C‐Butylglucoses from Glucuronolactone: Suppression of Silyl Migration During Borohydride Reduction of Lactols by Cerium(III) Chloride: Inhibition of Phosphoglucomutase.

المؤلفون: MASAGUER, C. F., BLERIOT, Y., CHARLWOOD, J., WINCHESTER, B. G., FLEET, G. W. J.

المصدر: ChemInform ; volume 29, issue 7 ; ISSN 0931-7597 1522-2667

الاتاحة: http://dx.doi.org/10.1002/chin.199807230
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fchin.199807230
https://onlinelibrary.wiley.com/doi/pdf/10.1002/chin.199807230

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13

Academic Journal

Enzyme Replacement Therapy—An Experiment of Nature in a Chimeric Mannosidosis Calf

المؤلفون: Jolly, R D, Thompson, K G, Murphy, C E, Manktelow, B W, Bruere, A N, Winchester, B G

المصدر: Pediatric Research ; volume 10, issue 4, page 219-224 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/00006450-197604000-00003

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14

Academic Journal

ChemInform Abstract: The Chemistry of Castanospermine. Part 5. Synthetic Modifications at C‐ 1 and C‐7.

المؤلفون: FURNEAUX, R. H., GAINSFORD, G. J., MASON, J. M., TYLER, P. C., HARTLEY, O., WINCHESTER, B. G.

المصدر: ChemInform ; volume 28, issue 15 ; ISSN 0931-7597 1522-2667

الاتاحة: http://dx.doi.org/10.1002/chin.199715207
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fchin.199715207
https://onlinelibrary.wiley.com/doi/pdf/10.1002/chin.199715207

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15

Academic Journal

ChemInform Abstract: Tetrazoles of Manno‐ and Rhamnofuranoses.

المؤلفون: DAVIS, B., BRANDSTETTER, T. W., SMITH, C., HACKETT, L., WINCHESTER, B. G., FLEET, G. W. J.

المصدر: ChemInform ; volume 27, issue 4 ; ISSN 0931-7597 1522-2667

الاتاحة: http://dx.doi.org/10.1002/chin.199604246
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fchin.199604246
https://onlinelibrary.wiley.com/doi/pdf/10.1002/chin.199604246

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16

Academic Journal

ChemInform Abstract: Chemistry of Castanospermine. Part 4. Synthetic Modifications at C‐8.

المؤلفون: FURNEAUX, R. H., GAINSFORD, G. J., MASON, J. M., TYLER, P. C., HARTLEY, O., WINCHESTER, B. G.

المصدر: ChemInform ; volume 27, issue 11 ; ISSN 0931-7597 1522-2667

الاتاحة: http://dx.doi.org/10.1002/chin.199611272
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fchin.199611272
https://onlinelibrary.wiley.com/doi/pdf/10.1002/chin.199611272

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17

Academic Journal

ChemInform Abstract: Tetrazoles of Manno‐ and Rhamno‐Pyranoses: Inhibition of Glycosidases by Tetrazoles and Other Mannose Mimics.

المؤلفون: BRANDSTETTER, T. W., DAVIS, B., HYETT, D., SMITH, C., HACKETT, L., WINCHESTER, B. G., FLEET, G. W. J.

المصدر: ChemInform ; volume 27, issue 4 ; ISSN 0931-7597 1522-2667

الاتاحة: http://dx.doi.org/10.1002/chin.199604247
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fchin.199604247
https://onlinelibrary.wiley.com/doi/pdf/10.1002/chin.199604247

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18

Academic Journal

ChemInform Abstract: Short Synthesis of a Bicyclic Mimic of α‐L‐Fucose.

المؤلفون: BEACHAM, A. R., BIGGADIKE, K., TAYLOR, H. E., HACKETT, L., WINCHESTER, B. G., WATKIN, D. J., FLEET, G. W. J.

المصدر: ChemInform ; volume 26, issue 8 ; ISSN 0931-7597 1522-2667

الاتاحة: http://dx.doi.org/10.1002/chin.199508251
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fchin.199508251
https://onlinelibrary.wiley.com/doi/pdf/10.1002/chin.199508251

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19

Academic Journal

ChemInform Abstract: Anomeric Spirohydantoins of Mannofuranose: Approaches to Novel Anomeric Amino Acids by an Oxidative Ring Contraction.

المؤلفون: BURTON, J. W., SON, J. C., FAIRBANKS, A. J., CHOI, S.‐M. S., TAYLOR, H., WATKIN, D. J., WINCHESTER, B. G., FLEET, G. W. J.

المصدر: ChemInform ; volume 25, issue 8 ; ISSN 0931-7597 1522-2667

الاتاحة: http://dx.doi.org/10.1002/chin.199408190
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fchin.199408190
https://onlinelibrary.wiley.com/doi/pdf/10.1002/chin.199408190

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20

Academic Journal

ChemInform Abstract: Synthesis of Cyclopentane Spirohydantoins by Aldol Cyclizations: An Approach to Highly Substituted α‐Cyclopentane Amino Acids.

المؤلفون: FAIRBANKS, A. J., ELLIOTT, R. P., SMITH, C., HUI, A., WAY, G., STORER, R., TAYLOR, H., WATKIN, D. J., WINCHESTER, B. G., FLEET, G. W. J.

المصدر: ChemInform ; volume 25, issue 14 ; ISSN 0931-7597 1522-2667

الاتاحة: http://dx.doi.org/10.1002/chin.199414128
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fchin.199414128
https://onlinelibrary.wiley.com/doi/pdf/10.1002/chin.199414128

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