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Literature summary for 3.2.1.76 extracted from

  • Valayannopoulos, V.; Boddaert, N.; Barbier, V.; Le Merrer, M.; Caillaud, C.; de Lonlay, P.
    Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase (2010), Mol. Genet. Metab., 100, 20-23.
    View publication on PubMed
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Application

Application Comment Organism
medicine the enzyme is useful in treatment of mucopolysaccharidosis type I, MPS I. In three patients with attenuated MPSA I, treated by laronidase, patients 2 and 3 display significant cognitive improvement within 2 years, and patients 1 and 3 display improvement, on MRI scans of the brain, overview 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, phenotype with and without treatment with laronidase, overview Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
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Synonyms

Synonyms Comment Organism
laronidase
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction mutations in the IDUA gene cause mucopolysaccharidosis type I, MPS I, a progressive multisystem disorder Homo sapiens