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Results: 1-15 |
Results: 15
Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation
Authors: Mills, P Mills, K Clayton, P Johnson, A Whitehouse, D Winchester, B
Citation: P. Mills et al., Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation, BIOCHEM J, 359, 2001, pp. 249-254
Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes
Authors: Whybra, C Kampmann, C Willers, I Davies, J Winchester, B Kriegsmann, J Bruhl, K Gal, A Bunge, S Beck, M
Citation: C. Whybra et al., Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes, J INH MET D, 24(7), 2001, pp. 715-724
Are there useful biochemical markers of disease activity in lysosomal storage diseases?
Authors: Winchester, B
Citation: B. Winchester, Are there useful biochemical markers of disease activity in lysosomal storage diseases?, J INH MET D, 24, 2001, pp. 52-56
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
Authors: Matthijs, G Schollen, E Bjursell, C Erlandson, A Freeze, H Imtiaz, F Kjaergaard, S Martinsson, T Schwartz, M Seta, N Vuillaumier-Barrot, S Westphal, V Winchester, B
Citation: G. Matthijs et al., Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia), HUM MUTAT, 16(5), 2000, pp. 386-394
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
Authors: Schollen, E Dorland, L de Koning, TJ Van Diggelen, OP Huijmans, JGM Marquardt, T Babovic-Vuksanovic, D Patterson, M Imtiaz, F Winchester, B Adamowicz, M Pronicka, E Freeze, H Matthijs, G
Citation: E. Schollen et al., Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib), HUM MUTAT, 16(3), 2000, pp. 247-252
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG
Authors: Aebi, M Helenius, A Schenk, B Barone, R Fiumara, A Berger, EG Hennet, T Imbach, T Stutz, A Bjursell, C Uller, A Wahlstrom, JG Briones, P Cardo, E Clayton, P Winchester, B Cormier-Daire, V de Lonlay, P Cuer, M Dupre, T Seta, N de Koning, T Dorland, L de Loos, F Kupers, L Fabritz, L Hasilik, M Marquardt, T Niehues, R Freeze, H Grunewald, S Heykants, L Jaeken, J Matthijs, G Schollen, E Keir, G Kjaergaard, S Schwartz, M Skovby, F Klein, A Roussel, P Korner, C Lubke, T Thiel, C von Figura, K Koscielak, J Krasnewich, D Lehle, L Peters, V Raab, M Saether, O Schachter, H Van Schaftingen, E Verbert, A Vilaseca, A Wevers, R Yamashita, K
Citation: M. Aebi et al., Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG, GLYCOBIOLOG, 10(6), 2000, pp. III-V
Modification of glycosylation as a therapeutic strategy
Authors: Winchester, B Fleet, GWJ
Citation: B. Winchester et Gwj. Fleet, Modification of glycosylation as a therapeutic strategy, J CARB CHEM, 19(4-5), 2000, pp. 471-483
The molecular basis of lysosomal storage diseases and their treatment
Authors: Winchester, B Vellodi, A Young, E
Citation: B. Winchester et al., The molecular basis of lysosomal storage diseases and their treatment, BIOCH SOC T, 28, 2000, pp. 150-154
Genotypes and phenotypes of patients in the UK with carbohydrate-deficientglycoprotein syndrome type 1
Authors: Imtiaz, F Worthington, V Champion, M Beesley, C Charlwood, J Clayton, P Keir, G Mian, N Winchester, B
Citation: F. Imtiaz et al., Genotypes and phenotypes of patients in the UK with carbohydrate-deficientglycoprotein syndrome type 1, J INH MET D, 23(2), 2000, pp. 162-174
Saposins A, B, C, and D in plasma of patients with lysosomal storage disorders
Authors: Chang, MHY Bindloss, CA Grabowski, GA Qi, XY Winchester, B Hopwood, JJ Meikle, PJ
Citation: Mhy. Chang et al., Saposins A, B, C, and D in plasma of patients with lysosomal storage disorders, CLIN CHEM, 46(2), 2000, pp. 167-174
Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation
Authors: Westphal, V Murch, S Kim, S Srikrishna, G Winchester, B Day, R Freeze, HH
Citation: V. Westphal et al., Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation, AM J PATH, 157(6), 2000, pp. 1917-1925
A rapid fluorogenic palmitoyl-protein thioesterase assay: Pre- and postnatal diagnosis of INCL
Authors: van Diggelen, OP Keulemans, JLM Winchester, B Hofman, IL Vanhanen, SL Santavuori, P Voznyi, YV
Citation: Op. Van Diggelen et al., A rapid fluorogenic palmitoyl-protein thioesterase assay: Pre- and postnatal diagnosis of INCL, MOL GEN MET, 66(4), 1999, pp. 240-244
Long-term follow-up following bone marrow transplantation for Hunter disease
Authors: Vellodi, A Young, E Cooper, A Lidchi, V Winchester, B Wraith, JE
Citation: A. Vellodi et al., Long-term follow-up following bone marrow transplantation for Hunter disease, J INH MET D, 22(5), 1999, pp. 638-648
Outlook for screening for sphingolipidoses
Authors: Winchester, B
Citation: B. Winchester, Outlook for screening for sphingolipidoses, LANCET, 354(9182), 1999, pp. 879-880
A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants
Authors: Voznyi, YV Keulemans, JLM Mancini, GMS Catsman-Berrevoets, CE Young, E Winchester, B Kleijer, WJ van Diggelen, OP
Citation: Yv. Voznyi et al., A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants, J MED GENET, 36(6), 1999, pp. 471-474
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