Search Results - "Besley, Guy T.N"

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene by Jansen, Gerbert A, Oftnan, Rob, Ferdinandusse, Sacha, Ijlst, Lodewijk, Muijsers, Anton O, Skjeldal, Ola H, Stokke, Oddvar, Jakobs, Cornells, Besley, Guy T.N, Wraith, J. Ed, Wanders, Ronald J.A

“…Refsum disease is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral…”
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Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease by Lohse, P, Maas, S, Lohse, P, Elleder, M, Kirk, J M, Besley, G T, Seidel, D

“…Cholesteryl ester storage disease and Wolman disease are rare autosomal recessive lipoprotein-processing disorders caused by mutations in the gene encoding…”
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Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue by Sargent, C A, Affara, N A, Bentley, E, Pelmear, A, Bailey, D M, Davey, P, Dow, D, Leversha, M, Aplin, H, Besley, G T

“…cDNA clones from a human adult testis cDNA library were isolated and sequenced as part of a programme to produce expressed sequence tags (ESTs). ESTs were used…”
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Retrovirally mediated correction of bone marrow–derived mesenchymal stem cells from patients with mucopolysaccharidosis type I by Baxter, Melissa A., Wynn, Robert F., Deakin, Jonathan A., Bellantuono, Ilaria, Edington, Kirsten G., Cooper, Alan, Besley, Guy T.N., Church, Heather J., Wraith, J. Ed, Carr, Trevor F., Fairbairn, Leslie J.

“…We have investigated the utility of bone marrow–derived mesenchymal stem cells (MSCs) as targets for gene therapy of the autosomal recessive disorder…”
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Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation by Cleary, M. A., Dorland, L., Koning, T. J., Poll‐The, B. T., Duran, M., Mandell, R., Shih, V. E., Berger, R., Olpin, S. E., Besley, G. T. N.

“…Summary We describe two unrelated cases of ornithine aminotransferase (OAT) deficiency with rare neonatal presentation of hyperammonaemia. The diagnosis in the…”
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Novel OCTN2 mutations: No genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy by Lamhonwah, Anne-Marie, Olpin, Simon E., Pollitt, Rodney J., Vianey-Saban, Christine, Divry, Priscille, Guffon, Nathalie, Besley, Guy T. N., Onizuka, Russell, De Meirleir, Linda J., Cvitanovic-Sojat, Ljerka, Baric, Ivo, Dionisi-Vici, Carlo, Fumic, Ksenija, Maradin, Miljenka, Tein, Ingrid

“…Primary systemic carnitine deficiency or carnitine uptake defect (OMIM 212140) is a potentially lethal, autosomal recessive disorder characterized by…”
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Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation by Sargent, Carole A, Kidd, Alexa, Moore, Sue, Dean, John, Besley, Guy T N, Affara, Nabeel A

“…Little is understood of the genotype/phenotype correlations in X linked glycerol kinase deficiency (GKD) where most cases are caused by extensive deletions of…”
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Sphingomyelinase defect in niemann-pick disease, type C, fibroblasts by Besley, Guy T.N.

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Spectrophotometric and fluorimetric assays of galactocerebrosidase activity, their use in the diagnosis of Krabbe's disease by Besley, G T, Gatt, S

“…Derivatives of galactocerebroside were prepared containing coloured (w-2,4,6-trinitrophenylaminolauric acid) or fluorescent (11-(9-anthroyloxy) undecanoic…”
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Effect of Triton X-100 on the isoelectric focusing profile of fibroblast sphingomyelinase by Besley, Guy T.N.

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Evidence from lectin-binding studies for abnormal glycosylation ofβ-hexosaminidase in the leukaemic cell-line CCRF/CEM by Moss, Stephen E, Besley, Guy T N

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The nature of lysosomal enzyme glycosylation in ALL: relevance to abnormal beta-hexosaminidase expression by Moss, S E, Besley, G T

“…The glycosylation of beta-hexosaminidase was investigated in the transformed cell-line, CCRF/CEM, derived from a human acute lymphoblastic leukaemia, and…”
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Studies on pyrophosphate diesterase activity in cultured human fibroblasts: a deficiency in Niemann-Pick disease by Besley, G T, Moss, S E

“…Fibroblast phosphodiesterase activity was studied using 4-methylumbelliferyl pyrophosphate diester as substrate. Release of the fluorogen,…”
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Studies on sphingomyelinase and beta-glucosidase activities in Niemann-Pick disease variants. Phosphodiesterase activities measured with natural and artificial substrates by Besley, G T, Moss, S E

“…Cultured fibroblasts were studied from 12 cases of Niemann-Pick disease group C. In 11, sphingomyelinase and glucocerebrosidase (and beta-glucosidase)…”
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Recognition of abnormal lysosomal enzyme patterns in childhood leukaemia by isoelectric focusing, with special reference to some properties of abnormally expressed components by Broadhead, D M, Besley, G T, Moss, S E, Bain, A D, Eden, O B, Sainsbury, C P

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Amylo-1,6-glucosidase activity in cultured cells: a deficiency in type III glycogenosis with prenatal studies by Besley, G T, Cohen, P T, Faed, M J, Wolstenholme, J

“…Deficiency of amylo-1,6-glucosidase activity was expressed in parallel in liver and skin fibroblasts from a patient with type III glycogenosis. In crude…”
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