Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy

Mucopolysaccharidosis type VI (MPS VI), or Maroteaux‐Lamy syndrome, is a lysosomal storage disorder caused by a deficiency of N‐acetylgalactosamine‐4‐sulfatase (ARSB). Seven MPS VI patients were chosen for the initial clinical trial of enzyme replacement therapy. Direct sequencing of genomic DNA fro...

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Veröffentlicht in:	Human mutation 2004-03, Vol.23 (3), p.229-233
Hauptverfasser:	Karageorgos, L., Harmatz, P., Simon, J., Pollard, A., Clements, P. R., Brooks, D. A., Hopwood, John J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative Splicing - genetics Animals ARSB arylsulfatase B Cell Line Cells, Cultured CHO Cells - chemistry CHO Cells - metabolism Cricetinae DNA Mutational Analysis - methods enzyme replacement therapy Fibroblasts - cytology Fibroblasts - enzymology Humans Introns - genetics Maroteaux-Lamy syndrome MPS VI Mucopolysaccharidosis IV - drug therapy Mucopolysaccharidosis IV - enzymology Mucopolysaccharidosis IV - genetics mucopolysaccharidosis type VI Mutation, Missense - genetics mutational analysis N-Acetylgalactosamine-4-Sulfatase - biosynthesis N-Acetylgalactosamine-4-Sulfatase - genetics N-Acetylgalactosamine-4-Sulfatase - physiology N-Acetylgalactosamine-4-Sulfatase - therapeutic use Point Mutation - genetics Sequence Deletion - genetics Skin - cytology
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