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The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK

โœ Scribed by David Moore; Martin J Connock; Ed Wraith; Christine Lavery

Book ID
119911346
Publisher
BioMed Central
Year
2008
Tongue
English
Weight
202 KB
Volume
3
Category
Article
ISSN
1750-1172

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โœ Atsushi Yamagishi; Shunji Tomatsu; Seiji Fukuda; Atsushi Uchiyama; Nobuyuki Shim ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 582 KB

## Sly a-L-Iduronidase (IDUA) deficiency (mucopolysaccharidosis type I; MI'S-I) is an inborn error of lysosomal degradation of glycosaminoglycans that results in storage of undegraded glycosaminoglycans in lysosomes. Previous studies in Caucasian populations showed that ( 1) homozygosity or compou