A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
about
Mutation analyses of North American APS-1 patientsMucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activityIdentification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromesNovel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in BrazilAminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells.Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patientsCan mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature.Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.Enzyme replacement in a canine model of Hurler syndrome.Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian SeriesRecombinant alpha-L-iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts.Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.Defective IDUA does not hydrolyse Heparan sulfate chain(6)Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.Defective IDUA does not hydrolyse the unsulfated alpha-L-iduronosidic link in DSDefective IDUA does not hydrolyse Heparan sulfate chain(1)Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
P2860
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P2860
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年学术文章
@wuu
1992年学术文章
@zh
1992年学术文章
@zh-cn
1992年学术文章
@zh-hans
1992年学术文章
@zh-my
1992年学术文章
@zh-sg
1992年學術文章
@yue
1992年學術文章
@zh-hant
name
A common mutation for mucopoly ...... ere Hurler syndrome phenotype.
@en
A common mutation for mucopoly ...... ere Hurler syndrome phenotype.
@nl
type
label
A common mutation for mucopoly ...... ere Hurler syndrome phenotype.
@en
A common mutation for mucopoly ...... ere Hurler syndrome phenotype.
@nl
prefLabel
A common mutation for mucopoly ...... ere Hurler syndrome phenotype.
@en
A common mutation for mucopoly ...... ere Hurler syndrome phenotype.
@nl
P2093
P356
P1433
P1476
A common mutation for mucopoly ...... ere Hurler syndrome phenotype.
@en
P2093
P2860
P304
P356
10.1002/HUMU.1380010204
P577
1992-01-01T00:00:00Z