Associated Papers
Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks.
Leal AF et al.
International Journal of Molecular Sciences, 2023
Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16.
Catarzi S et al.
Molecular Genetics and Metabolism, 2012
Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.
Tomatsu S et al.
Molecular Genetics and Metabolism, 2007
Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.
Tomatsu S et al.
Human Molecular Genetics, 2005
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.
Sukegawa K et al.
Human Molecular Genetics, 2000
[Mucopolysaccharidosis type IV (Morquio syndrome, beta-galactosidase deficiency)].
Sukegawa K et al.
Ryoikibetsu Shokogun Shirizu, 1998
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