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Characterization of a recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in E. coli for enzyme replacement therapy of Morquio A disease

✍ Scribed by Angela Mosquera; Alexander Rodríguez; Carlos Soto; Felice Leonardi; Angela Espejo; Oscar F. Sánchez; Carlos J. Alméciga-Díaz; Luis A. Barrera

Book ID
119352656
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
493 KB
Volume
47
Category
Article
ISSN
1873-3298

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Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA)
✍ Cole, D. E. C.; Fukuda, S.; Gordon, B. A.; Rip, J. W.; LeCouteur, A. N.; Rupar, 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB

Morquio disease (MPS IVA) is an autosomal recessive disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Patients commonly present in early infancy with growth failure, spondyloepiphyseal dysplasia, corneal opacification, and keratan sulfaturia, but milder f