A sensitive procedure for the diagnosis of N-acetyl-galactosamine-6-sulfate sulfatase deficiency in classical Morquio's disease

Heteroallelic missense mutations of the

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