B. Weber

发表

Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient.

J. Hopwood, J. Meehan, G. Yogalingam, 2000, Biochimica et biophysica acta.

Expression and characterization of human recombinant and alpha-N-acetylglucosaminidase.

J. Hopwood, G. Yogalingam, B. Weber, 2001, Protein expression and purification.

Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients.

J. Hopwood, V. Muller, B. Weber, 2001, Molecular genetics and metabolism.

Molecular defects in Sanfilippo syndrome type A.

H. Scott, J. Hopwood, X. Guo, 1997, Human molecular genetics.

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)

J. Hopwood, W. Kleijer, A. Gal, 1997, Human mutation.

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes

J. Hopwood, B. Poorthuis, W. Kleijer, 1999, European Journal of Human Genetics.

Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B).

H. Scott, J. Hopwood, P. Clements, 1996, Human molecular genetics.

Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.

J. Hopwood, B. Weber, E. Voskoboeva, 1998, Molecular genetics and metabolism.

Novel mutations in Sanfilippo A syndrome: implications for enzyme function.

J. Hopwood, W. Kleijer, X. Guo, 1997, Human molecular genetics.

Expression and characterization of human recombinant and alpha-N-acetylglucosaminidase.

J. Hopwood, G. Yogalingam, B. Weber, 2001, Protein expression and purification.

Structure and sequence of the human sulphamidase gene.

H. Scott, L. Karageorgos, J. Hopwood, 1996, DNA research : an international journal for rapid publication of reports on genes and genomes.

Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B

T. Coşkun, J. Hopwood, S. Emre, 2002, Human mutation.

Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.

J. Hopwood, S. Esposito, A. Daniele, 2000, Biochimica et biophysica acta.

Identification of a common mutation (R245H) in Sanfilippo A patients from the Netherlands

R. Wevers, J. Hopwood, B. Poorthuis, 1998, Journal of Inherited Metabolic Disease.

Expression and Characterization of Wild Type and Mutant Recombinant Human Sulfamidase

J. Hopwood, S. Byers, G. Yogalingam, 1999, The Journal of Biological Chemistry.