- ►oxfordjournals.org S Tomatsu, M Gutierrez, T Nishioka, M … - Human Molecular Genetics, 2005 - Oxford Univ Press Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disease caused by
N-acetylgalactosamine-6-sulfate sulfatase (GALNS) deficiency. In recent studies
of enzyme replacement therapy for animal models with lysosomal storage ... Cited by 11 - Related articles - BL Direct - All 5 versions
AM Montaño, K Sukegawa, Z Kato, R Carrozzo, … - Journal of Inherited Metabolic Disease, 2007 - Springer Summary Mucopolysaccharidosis IVA is an autoso- mal recessive disease caused by
the deficiency of N- acetylgalactosamine-6-sulfate sulfatase (GALNS). Mutation
screening of the GALNS gene was performed for seven MPS IVA patients with ... Cited by 3 - Related articles - All 2 versions
S Tomatsu, K Sukegawa, GG Trandafirescu, MA … - European Journal of Human Genetics, 2006 - nature.com Hunter syndrome, an X-linked disorder, results from deficiency of
iduronate-2-sulfatase (IDS). Around 40% of independent point mutations at IDS
were found at CpG sites as transitional events. The 15 CpG sites in the ... Cited by 2 - Related articles - BL Direct - All 4 versions
S Tomatsu, M Gutierrez, T Nishioka, M … - Human Molecular Genetics - Oxford Univ Press Page 1. 1 HMG-2005W-00495 Development of MPS IVA mouse (Galns tm(hC79S•mC76S)slu )
tolerant to human N- acetylgalactosamine-6-sulfate sulfatase ... Related articles
JR Foundation, B Foundation - Human Mutation - interscience.wiley.com Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal-recessive
disorder caused by a deficiency of lysosomal N-acetylgalactosamine-6-sulfate
sulfatase (GALNS; EC3.1.6.4). GALNS is required to degrade ... Related articles
[CITATION] Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA ( …
S Tomatsu, AM Montaño, T Nishioka, MA … - Human Mutation, 2005 - Wiley Subscription Services, Inc., A Wiley Company … Related articles