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Effect of ‘attenuated’ mutations in mucopolysaccharidosis IVA on molecular phenotypes ofN-acetylgalactosamine-6-sulfate sulfatase

✍ Scribed by A. M. Montaño; K. Sukegawa; Z. Kato; R. Carrozzo; P. Di Natale; E. Christensen; K. O. Orii; T. Orii; N. Kondo; S. Tomatsu


Book ID
106374290
Publisher
Springer
Year
2007
Tongue
English
Weight
417 KB
Volume
30
Category
Article
ISSN
0141-8955

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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