Title : Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.

Pub. Date : 1996

PMID : 8664897






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 alpha-L-Iduronidase (IDUA) deficiency (mucopolysaccharidosis type I; MPS-I) is an inborn error of lysosomal degradation of glycosaminoglycans that results in storage of undegraded glycosaminoglycans in lysosomes. Glycosaminoglycans alpha-L-iduronidase Homo sapiens
2 alpha-L-Iduronidase (IDUA) deficiency (mucopolysaccharidosis type I; MPS-I) is an inborn error of lysosomal degradation of glycosaminoglycans that results in storage of undegraded glycosaminoglycans in lysosomes. Glycosaminoglycans alpha-L-iduronidase Homo sapiens