Pages that link to "Q56815974"

The following pages link to John Hopwood (Q56815974):

Displayed 50 items.

• Immunopurification and characterization of human alpha-L-iduronidase with the use of monoclonal antibodies (Q24293700) ‎ (← links)
• Human liver N-acetylglucosamine-6-sulphate sulphatase. Catalytic properties (Q24299605) ‎ (← links)
• Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B (Q24338264) ‎ (← links)
• Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties (Q24529529) ‎ (← links)
• Human liver N-acetylgalactosamine 6-sulphatase. Purification and characterization (Q24529592) ‎ (← links)
• Recombinant human sulphamidase: expression, amplification, purification and characterization (Q24530626) ‎ (← links)
• Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA (Q24556599) ‎ (← links)
• Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A (Q28115935) ‎ (← links)
• Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects (Q28139325) ‎ (← links)
• Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II (Q28183135) ‎ (← links)
• PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene (Q28184528) ‎ (← links)
• Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications (Q28201581) ‎ (← links)
• Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B (Q28215709) ‎ (← links)
• Molecular defects in Sanfilippo syndrome type A (Q28238629) ‎ (← links)
• Novel mutations in Sanfilippo A syndrome: implications for enzyme function (Q28248183) ‎ (← links)
• Structure and sequence of the human alpha-L-iduronidase gene (Q28254181) ‎ (← links)
• Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype (Q28256378) ‎ (← links)
• Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A) (Q28256743) ‎ (← links)
• Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene (Q28276264) ‎ (← links)
• Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands (Q28279322) ‎ (← links)
• Human alpha-L-fucosidase: complete coding sequence from cDNA clones (Q28280051) ‎ (← links)
• Structure and sequence of the human sulphamidase gene (Q28298618) ‎ (← links)
• Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome (Q28301276) ‎ (← links)
• The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome) (Q28303108) ‎ (← links)
• Sanfilippo D syndrome: estimation of N-acetylglucosamine-6-sulfatase activity with a radiolabeled monosulfated disaccharide substrate (Q28340881) ‎ (← links)
• Human liver sulphamate sulphohydrolase. Determinations of native protein and subunit Mr values and influence of substrate agylcone structure on catalytic properties (Q28362018) ‎ (← links)
• Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy (Q28586585) ‎ (← links)
• A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases (Q28609251) ‎ (← links)
• Human alpha-L-iduronidase: cDNA isolation and expression (Q28609270) ‎ (← links)
• Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase (Q28609275) ‎ (← links)
• Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes (Q28609285) ‎ (← links)
• Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B) (Q28609288) ‎ (← links)
• Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein (Q30418311) ‎ (← links)
• Long-term amelioration of feline Mucopolysaccharidosis VI after AAV-mediated liver gene transfer (Q30498316) ‎ (← links)
• Neonatal gene therapy with a gamma retroviral vector in mucopolysaccharidosis VI cats. (Q30513972) ‎ (← links)
• Sanfilippo syndrome type D in two adolescent sisters (Q33597081) ‎ (← links)
• Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase (Q33688165) ‎ (← links)
• Impact of high-dose, chemically modified sulfamidase on pathology in a murine model of MPS IIIA. (Q33880432) ‎ (← links)
• Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells. (Q33947357) ‎ (← links)
• Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. (Q33995906) ‎ (← links)
• Distribution of Heparan Sulfate Oligosaccharides in Murine Mucopolysaccharidosis Type IIIA (Q34785756) ‎ (← links)
• Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I (Q35127939) ‎ (← links)
• Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial. (Q35199296) ‎ (← links)
• Significance of immune response to enzyme-replacement therapy for patients with a lysosomal storage disorder. (Q35558692) ‎ (← links)
• PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease (Q35794776) ‎ (← links)
• Diagnosis of lysosomal storage disorders: current techniques and future directions. (Q35878288) ‎ (← links)
• Laronidase treatment of mucopolysaccharidosis I. (Q36029802) ‎ (← links)
• Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene. (Q36108146) ‎ (← links)
• The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosis (Q36246571) ‎ (← links)
• Stop-codon read-through for patients affected by a lysosomal storage disorder. (Q36517730) ‎ (← links)