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.

Search for more literature for 3.2.1.76

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	-	-	-

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

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Release 2023.1 (January 2023)