Condition: Hurler-Scheie Syndrome


rs121965019 in IDUA gene and Hurler-Scheie Syndrome PMID 29393969 2018 Worldwide distribution of common IDUA pathogenic variants.

PMID 1301196 1992 A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.

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

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

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

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 12559846 2003 Identification and characterization of 13 new mutations 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 10466419 1999 Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.

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

PMID 10735634 2000 Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S.

rs121965020 in SLC26A1;IDUA gene and Hurler-Scheie Syndrome PMID 23786846 2013 Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

PMID 29393969 2018 Worldwide distribution of common IDUA pathogenic variants.

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