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Literature summary for 3.2.1.76 extracted from

  • Tylki-Szymanska, A.; Rozdzynska, A.; Jurecka, A.; Marucha, J.; Czartoryska, B.
    Anthropometric data of 14 patients with mucopolysaccharidosis I: retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase) (2010), Mol. Genet. Metab., 99, 10-17.
    View publication on PubMed

Application

Application Comment Organism
medicine the enzyme is useful in treatment of mucopolysaccharidosis type I, MPS I, by enzyme replacement therapy Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information mutations in the IDUA gene cause mucopolysaccharidosis type I, MPS I, a progressive multisystem disorder, phenotypes, overview. Growth patterns in terms of body height, weight, head and chest circumference in patients with MPS I without treatment and after enzyme replacement therapy with alpha-L-iduronidase, overview Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Source Tissue

Source Tissue Comment Organism Textmining

Synonyms

Synonyms Comment Organism
alpha-L-iduronidase
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Homo sapiens
laronidase
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Homo sapiens