Condition: Mucopolysaccharidosis I


rs121965019 in IDUA gene and Mucopolysaccharidosis I PMID 8680403 1995 Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

PMID 23786846 2013 Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

PMID 24368159 2014 Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.

PMID 10215409 1998 Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. Online.

PMID 11735025 2001 Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

PMID 19751987 2010 Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.

PMID 24698225 2014 [Hurler syndrome: early diagnosis and treatment].

PMID 21394825 2011 IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

PMID 9427149 1997 Mutations among Italian mucopolysaccharidosis type I patients.

PMID 1301196 1992 W402X introduces a MaeI restriction endonuclease site into MPS-I alleles enabling its simple detection, which should make possible the assessment of the efficacy of bone marrow transplantation in MPS-I patients homozygous for W402X.

PMID 12509712 2003 Eleven different mutations including two common mutations (Q70X, W402X), five recurrent mutations (D315Y, P533R, R621X, R628X, S633L), and four novel mutations (R162I, G208D, 1352delG, 1952del25bp) were identified from MPS I patients.

PMID 24798265 2015 Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

PMID 7951228 1994 Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

PMID 27511503 2016 Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.

PMID 16435195 2005 Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.

PMID 1301941 1992 We have now described three mutations, W402X (Scott et al., 1992c), Q70X, and P533R totalling 53% of MPS-I alleles which together define 28% of MPS-I genotypes.

PMID 21521498 2011 Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.

PMID 21639919 2011 Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.

PMID 10911525 2000 [Mucopolysaccharidosis type I in Morocco: clinical features and genetic profile].

PMID 24036510 2013 Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.

PMID 7951228 1994 Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

PMID 21734815 2011 Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.

PMID 10466419 1999 Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.

PMID 15862278 2005 A homology model for human alpha-l-iduronidase: insights into human disease.

PMID 9391892 1997 Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.

PMID 21480867 2012 Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis.

PMID 7550242 1995 Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.

PMID 27896125 2014 Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.

PMID 15300847 2004 Six novel mutations, c.1087C>T (p.R363C), c.1804T>A (p.F602I), c.793G>C, c.712T>A (p.L238Q), c.1727+2T>A, and c.1269C>G (p.S423R), in a total of 14 different mutations, and 13 different polymorphic changes, including the novel c.246C>G (p.H82Q), were identified in a cohort of 10 MPS I patients enrolled in a clinical trial of enzyme-replacement therapy.

PMID 15300847 2004 Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

PMID 12559846 2003 Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

PMID 19396826 2009 Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

PMID 24875751 2014 Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.

PMID 23837464 2013 An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.

PMID 8213840 1993 Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.

PMID 28752568 2017 IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.

PMID 9748610 1998 Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.

PMID 8019563 1994 Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.

PMID 12203999 2002 Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.

PMID 9787109 1998 Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.

PMID 27520059 2016 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.

PMID 8664897 1996 Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.

rs121965020 in SLC26A1;IDUA gene and Mucopolysaccharidosis I PMID 9787109 1998 Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.

PMID 9427149 1997 Mutations among Italian mucopolysaccharidosis type I patients.

PMID 8680403 1995 Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

PMID 24368159 2014 Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.

PMID 10215409 1998 Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. Online.

PMID 7951228 1994 Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

PMID 8401515 1993 Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.

PMID 23786846 2013 Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

PMID 11735025 2001 Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

PMID 21831683 2011 A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.

PMID 24314423 2013 The great masquerade: delayed diagnosis of mucopolysaccharidosis in adulthood.

PMID 21394825 2011 IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

PMID 18796143 2008 The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK.

PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

PMID 19396826 2009 Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

PMID 1301941 1992 We have now described three mutations, W402X (Scott et al., 1992c), Q70X, and P533R totalling 53% of MPS-I alleles which together define 28% of MPS-I genotypes.

PMID 8664897 1996 In the 19 Japanese MPS-I patients, the 704ins5 mutation accounted for 7 of 38 alleles (18%), while the R89Q accounted for 9 of 38 (24%).

PMID 14559116 2003 This was consistent with MPS I patients, with an R89W allele, having a less severe clinical presentation compared to MPS I patients with either a double or single allelic R89Q mutation.

PMID 21480867 2012 Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis.

PMID 12189649 2002 Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity.

PMID 15300847 2004 Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

PMID 7951228 1994 Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

PMID 7550242 1995 Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.

PMID 12559846 2003 Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

PMID 27896125 2014 Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.

PMID 22306676 2012 Analysis of cDNA molecules is not suitable for the molecular diagnosis of Mucopolysaccharidosis type I.

PMID 14559116 2003 This was consistent with MPS I patients, with an R89W allele, having a less severe clinical presentation compared to MPS I patients with either a double or single allelic R89Q mutation.

PMID 8664897 1996 Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.

PMID 12203999 2002 Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.

PMID 19839758 2009 Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms.