Decreasing Activity and Altered Protein Processing of Human Iduronate-2-sulfatase Mutations Demonstrated by Expression in COS7 Cells
Voraratt Champattanachai
Biochemical Genetics, 2012
View PDFchevron_right
Intermediate form of mucopolysaccharidosis type II (Hunter disease): A C1327 to T substitution in the iduronate sulfatase gene
Katsuyuki Tamai
Biochemical and Biophysical Research Communications, 1992
View PDFchevron_right
Hunter's syndrome: A deficiency of L-idurono-sulfate sulfatase
L.-a. Fransson, Reuben Matalon
Biochemical and Biophysical Research Communications, 1973
View PDFchevron_right
Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase
Chester Whitley
Proceedings of the National Academy of Sciences, 1993
View PDFchevron_right
Gene therapy of Hunter syndrome: Evaluation of the efficiency of muscle electro gene transfer for the production and release of recombinant iduronate-2-sulfatase (IDS)
Maurizio Scarpa
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2008
View PDFchevron_right
Identification of 6 new mutations in the iduronate sulfatase gene
Marion Coulter-mackie
Human Mutation, 1999
View PDFchevron_right
Profile of idursulfase for the treatment of Hunter syndrome
Ferdinando Ceravolo
Research and Reports in Endocrine Disorders, 2015
View PDFchevron_right
Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro
Aurora Daniele
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2002
View PDFchevron_right
Bioinformatic Analysis of the Human Recombinant Iduronate 2-Sulfate Sulfatase
Patricia Landazuri
The Open Microbiology Journal, 2016
View PDFchevron_right
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II
Mirella Filocamo, Stefano Regis
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2001
View PDFchevron_right
Expression of five iduronate-2-sulfatase site-directed mutations
Nicola Balzano
Biochimica Et Biophysica Acta-molecular Basis of Disease, 2000
View PDFchevron_right
Murine model (Galnstm(C76S)slu) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins
MONICA GUTIERREZ
Molecular Genetics and Metabolism, 2007
View PDFchevron_right
The correction of hunter fibroblasts by exogenous iduronate sulfate sulfatase: Biochemical and ultrastructural studies
Gideon Bach
The American Journal of Human Genetics, 1981
View PDFchevron_right
Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA
peter Clements
Proceedings of the National Academy of Sciences, 1990
View PDFchevron_right
The Open Microbiology Journal Bioinformatic Analysis of the Human Recombinant Iduronate 2- Sulfate Sulfatase
Raúl Alberto Poutou Piñales
View PDFchevron_right
The Effect of Recombinant Human Iduronate-2-Sulfatase (Idursulfase) on Growth in Young Patients with Mucopolysaccharidosis Type II
Anna Tylki-szymanska
PLoS ONE, 2014
View PDFchevron_right
Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: Identification of 13 novel mutations
Cheol Kyu Han
Human Mutation, 2003
View PDFchevron_right
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome)
Regis Andriolo
… Database Syst Rev, 2011
View PDFchevron_right
Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome
James Ketudat Cairns
Journal of Inherited Metabolic Disease, 2008
View PDFchevron_right
Successful desensitization to idursulfase in a patient with type II mucopolysaccharidosis (Hunter syndrome)
Carlos Serrano
Journal of investigational allergology & clinical immunology, 2011
View PDFchevron_right
Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene
Rudee Surarit
Human Mutation, 1993
View PDFchevron_right
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene
Mirella Filocamo
Human Mutation, 2001
View PDFchevron_right
Comparative study of idursulfase beta and idursulfase in vitro and in vivo
Chihwa Kim
Journal of Human Genetics, 2016
View PDFchevron_right
Enigmatic In Vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome
Mirella Filocamo, Susanna Lualdi, Stefano Regis
Human Mutation, 2010
View PDFchevron_right
Identification of novel variation in introns three and four of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II
steven arianto
Journal of Physics: Conference Series, 2018
View PDFchevron_right
Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II
Ewa Popowska
European Journal of Human Genetics, 1998
View PDFchevron_right
Results of enzyme replacement therapy in Bulgarian patients with a severe form of hunter syndrome: A 42-month follow-up
Radka Tincheva
Genetika, 2018
View PDFchevron_right
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
Maurizio Scarpa
European Journal of Pediatrics, 2008
View PDFchevron_right