|1.||Hopwood, John J: 15 articles (03/2015 - 04/2002)|
|2.||Giugliani, Roberto: 11 articles (08/2014 - 01/2003)|
|3.||Harmatz, Paul: 11 articles (08/2014 - 05/2004)|
|4.||Scarpa, Maurizio: 7 articles (03/2015 - 04/2006)|
|5.||Tobacman, Joanne K: 6 articles (08/2015 - 06/2003)|
|6.||Bhattacharyya, Sumit: 6 articles (08/2015 - 05/2007)|
|7.||Ketteridge, David: 6 articles (08/2014 - 06/2005)|
|8.||Auricchio, Alberto: 5 articles (03/2015 - 01/2008)|
|9.||Guffon, Nathalie: 5 articles (08/2014 - 04/2006)|
|10.||Brooks, Doug A: 5 articles (05/2012 - 04/2002)|
|1.||Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy)
03/01/2003 - "This study evaluates the immunological response following weekly 2h infusions of recombinant human N-acetylgalactosamine 4-sulfatase (rh4S) in Mucopolysaccharidosis VI (MPS VI) cats. "
07/01/1986 - "Arylsulfatase B activity in cultured retinal pigment epithelium: regional studies in feline mucopolysaccharidosis VI."
08/01/1985 - "The demonstration of two allelic mutations in the feline arylsulfatase B gene documented the occurrence of genetic heterogeneity in feline mucopolysaccharidosis VI and permitted characterization of the enzymatic defect in homoallelic and heteroallelic (genetic compound) homozygotes, providing a model for the study of allelism in human genetic disorders."
08/01/1985 - "Animal model studies of allelism: characterization of arylsulfatase B mutations in homoallelic and heteroallelic (genetic compound) homozygotes with feline mucopolysaccharidosis VI."
08/01/2014 - "Mucopolysaccharidosis VI (MPS VI) is a clinically heterogeneous and progressive disorder with multiorgan manifestations caused by deficient N-acetylgalactosamine-4-sulfatase activity. "
05/01/2004 - "To evaluate the safety and efficacy of weekly treatment with human recombinant N-acetylgalactosamine 4-sulfatase (rhASB) in humans with mucopolysaccharidosis type VI (MPS VI). "
02/01/2010 - "Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation. "
12/07/2015 - "Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI."
06/15/2015 - "Mucopolysaccharidosis type VI can be screened by measuring the lysosomal arylsulfatase B (ARSB) residual enzyme activity in dried blood spots (DBS) using synthetic substrates. "
01/01/2015 - "Deletion of exon 4 in the N-acetylgalactosamine-4-sulfatase gene in a Taiwanese patient with mucopolysaccharidosis type VI."
|3.||Vitamin A Deficiency
|5.||Lysosomal Storage Diseases (Lysosomal Storage Disease)
02/01/2013 - "Liver gene transfer with adeno-associated viral (AAV) 2/8 vectors is being considered for therapy of systemic diseases like mucopolysaccharidosis type VI (MPS VI), a lysosomal storage disease due to deficiency of arylsulfatase B (ARSB). "
01/01/2013 - "Mucopolysaccharidosis VI (MPS VI) is an inherited lysosomal storage disease caused by a mutation of the gene for arylsulfatase B (ASB). "
06/01/2005 - "Mucopolysaccharidosis VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disease caused by a deficiency of the enzyme N-acetylgalactosamine 4-sulfatase (ASB). "
12/01/2001 - "Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulphatase (arylsulfatase B, ASB). "
01/01/1998 - "Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulfatase (4S). "
|3.||N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)
|4.||Cerebroside-Sulfatase (Arylsulfatase A)
|5.||Eosinophil Cationic Protein
|10.||Chondroitin Sulfates (Chondroitin Sulfate)
|1.||Enzyme Replacement Therapy
|2.||Drug Therapy (Chemotherapy)