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A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA

✍ Scribed by Z. Kato; Seiji Fukuda; Shunji Tomatsu; Hugo Vega; Teruo Yasunaga; Atsushi Yamagishi; Naoto Yamada; A. Valencia; Luis Alejandro Barrera; Kazuko Sukegawa; Tadao Orii; Naomi Kondo


Book ID
106136808
Publisher
Springer
Year
1997
Tongue
English
Weight
77 KB
Volume
101
Category
Article
ISSN
0340-6717

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Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS; EC 3.1.6.4). The deficiency of N-acetylgalactosamine-6-sulfate sulfatase leads to lysosomal accumulation of undegraded glycosaminoglycans, keratan sulfate

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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