Zobrazeno 1 - 10 of 12 pro vyhledávání: '"B G, Winchester"'
1
Animal medical genetics: a historical perspective on more than 50 years of research into genetic disorders of animals at Massey University
Autor: B. G. Winchester, K.G. Thompson, David Palmer, N. S. Van de Water, AC Johnstone, Keren E. Dittmer, Robert D. Jolly, Kim M. Hemsley, Andrew J. Worth, Boyd R. Jones, Dorian J. Garrick, Steven U. Walkley
Publikováno v: New Zealand veterinary journal. 69(5)
Over the last 50 years, there have been major advances in knowledge and technology regarding genetic diseases, and the subsequent ability to control them in a cost-effective manner. This review traces these advances through research into genetic dise
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::539d58c732b45d9f6d74dcd976171ddf
https://pubmed.ncbi.nlm.nih.gov/33969809
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2
G M1 -gangliosidosis in a cross-bred dog confirmed by detection of G M1 -ganglioside using electrospray ionisation-tandem mass spectrometry
Autor: A. W. Johnson, B. G. Winchester, K. A. Dunn, Robin J.M. Franklin, A. J. N. Delauche, P. Whitfield
Publikováno v: Acta Neuropathologica. 100:409-414
The post-mortem diagnosis of lysosomal storage diseases can be confounded by the unavailability of suitable material. Here we report the diagnosis of GM1-gangliosidosis in a cross-bred dog, from which only formalin-fixed brain was available, by a com
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c63817830e3fff81a811269561ec02f
https://doi.org/10.1007/s004010000187
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3
The molecular defect underlying canine fucosidosis
Autor: M E Herrtage, Barbara Skelly, D R Sargan, B G Winchester
Publikováno v: Journal of Medical Genetics. 33:284-288
Fucosidosis is a lysosomal storage disease which affects humans and English springer spaniel dogs. The disease is recessively inherited in both species and results from a deficiency of the enzyme alpha-L-fucosidase. We have recently cloned and sequen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c20bf6f46b11626791a66e825eb9dc53
https://doi.org/10.1136/jmg.33.4.284
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4
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
Autor: P B, Mills, K, Mills, A W, Johnson, P T, Clayton, B G, Winchester
Publikováno v: Proteomics. 1(6)
The state of protein glycosylation in terms of occupation of potential N-linked glycosylation sites (macroheterogeneity) and type of glycosylation at that site (microheterogeneity) is important when investigating the consequences of aberrant glycosyl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::df7d49efa6042d0f67677363153296ea
https://pubmed.ncbi.nlm.nih.gov/11677785
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5
Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi
Autor: E P, Young, B G, Winchester, W, Peter Logan, R B, Wheeler, B D, Lake
Publikováno v: Prenatal diagnosis. 20(4)
We report the exclusion of late infantile neuronal ceroid lipofuscinosis in a fetus by assay of tripeptidyl peptidase I activity and by mutational analysis in chorionic villi. This is the first pregnancy at risk for LINCL to be monitored by enzyme as
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fdd0aa6ad657457d6bc9edc4d040cfeb
https://pubmed.ncbi.nlm.nih.gov/10740208
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7
Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose
Autor: D G Keir, V C Worthington, Faiqa Imtiaz, E Schollen, M J Henderson, Christian J. Hendriksz, Patricia McClean, Gert Matthijs, B G Winchester
Publikováno v: Archives of Disease in Childhood. 85:339-340
An Asian girl presented with failure to thrive, congenital hepatic fibrosis, protein losing enteropathy, and hypoglycaemia. Phosphomannose isomerase activity in skin fibroblasts was reduced. She is homozygous for a mutation, D131N, in the phosphomann
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8867ea499f0304de9435558f13cf5a62
https://doi.org/10.1136/adc.85.4.339
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8
The substrate specificity of bovine and feline lysosomal alpha-D-mannosidases in relation to alpha-mannosidosis
Autor: R, DeGasperi, S, al Daher, P F, Daniel, B G, Winchester, R W, Jeanloz, C D, Warren
Publikováno v: The Journal of biological chemistry. 266(25)
Lysosomal alpha-mannosidases were partially purified from bovine and feline liver and employed to digest a large number of oligosaccharides with structures corresponding to the oligomannosyl parts of complex, hybrid, and high-mannose glycans. The inc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::79f2e0f23f1bc3376e0789985db999b1
https://pubmed.ncbi.nlm.nih.gov/1885586
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9
Enzyme Replacement Therapy—An Experiment of Nature in a Chimeric Mannosidosis Calf
Autor: B W Manktelow, B G Winchester, C E Murphy, A N Bruere, K G Thompson, R D Jolly
Publikováno v: Pediatric Research. 10:219-224
Extract: This paper describes an experiment of nature involving a chimeric calf with mannosidosis which had obtained a natural transplant of lymphocytes from its normal twin during fetal development as a result of fusion of the placentas. Karyotyping
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21afc77e536e480accc26f452747c915
https://doi.org/10.1203/00006450-197604000-00003
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