Condition: Mucopolysaccharidosis V


rs121965019 in IDUA gene and Mucopolysaccharidosis V PMID 24368159 2014 Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.

PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel 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 1301196 1992 A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.

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

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

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

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

PMID 7550232 1995 Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).

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

PMID 25256405 2015 p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.

rs121965020 in SLC26A1;IDUA gene and Mucopolysaccharidosis V 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 1301941 1992 alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

PMID 8213840 1993 R89Q and 678-7g-->a were found to be present in 40% of Scheie syndrome alleles.

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

PMID 25256405 2015 p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.

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

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

PMID 7550232 1995 Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).

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