| 1 | IDUA, MPS1
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| Mucopolysaccharidosis type I, unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking α-l-iduronidase.
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| Holley RJ, Deligny A, Wei W, Watson HA, Niñonuevo MR, Dagälv A, Leary JA, Bigger BW, Kjellén L, Merry CL.
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| J Biol Chem 286(43):37515-24. doi: 10.1074/jbc.M111.287474. Epub 2011 Aug 26.
2011
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| 2 | IDUA, MPS1
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| Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type I.
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| Sugawara K, Saito S, Ohno K, Okuyama T, Sakuraba H.
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| J Hum Genet 53(5):467-74. Epub 2008 Mar 14.
2008
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| 3 | IDUA
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| alpha-L-Iduronidase transport in neurites.
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| Chen F, Vitry S, Hocquemiller M, Desmaris N, Ausseil J, Heard JM.
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| Mol Genet Metab 87(4):349-58. Epub 2006 Jan 24. 2006
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| 4 | MPS1, IDUA, GBA1
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| Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I).
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| Pastores GM, Meere PA.
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| Curr Opin Rheumatol 17(1):70-8. Review. 2005
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| 5 | MPS1, IDUA
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| The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations.
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| Muenzer J.
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| J Pediatr 144(5 Suppl):S27-34. Review. No abstract available. 2004
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| 6 | MPS1, IDUA
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| Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature.
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| Terlato NJ, Cox GF.
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| Genet Med 5(4):286-94. Review. 2003
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| 7 | MPS1, IDUA
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| Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.
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| Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, Winchester BG.
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| Hum Genet 109(5):503-11. Epub 2001 Oct 19. 2001
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| 8 | IDUA, MPS1
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| Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.
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| Lee-Chen GJ, et al.
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| Clin Genet 56(1):66-70. 1999
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| 9 | MPS1, IDUA
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| Prevalence of lysosomal storage disorders.
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| Meikle PJ, Hopwood JJ, Clague AE, Carey WF.
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| JAMA 281(3):249-54. 1999
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| 10 | IDUA, MPS1
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| Molecular genetics of mucopolysaccharidosis type I : mutation analysis among the patients of the former Soviet Union.
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| Voskoboeva EY, Krasnopolskaya XD, Mirenburg TV, Weber B, Hopwood JJ.
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| Mol Genet Metab 65 : 174-180. 1998
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| 11 | MPS1, IDUA
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| Hurler syndrome: past, present, and future.
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| Peters C, Shapiro EG, Krivit W.
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| J Pediatr 133(1):7-9. No abstract available. 1998
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| 12 | IDUA, MPS1, IDS
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| Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.
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| Aronovich EL, et al.
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| Am J Hum Genet 58 : 75-85. 1996
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| 13 | IDUA, MPS1
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| Mucopolysaccharidosis type I : identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.
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| Yamagishi A, et al.
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| Hum Mutat 7 : 23-29. 1996
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| 14 | IDUA, MPS1
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| Molecular genetics of mucopolysaccharidosis type I : diagnostic, clinical and biological implications.
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| Scott HS, et al.
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| Hum Mutat 6 : 288-302. 1995
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| 15 | IDUA
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| A deletion polymorphism in intron 4 of the IDUA gene.
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| Cudry S, et al.
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| Mol Cell Probes 9 : 143. 1995
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| 16 | IDUA, MPS1
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| Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS 1S and MPS 1H/S).
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| Tieu PT, et al.
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| Hum Mutat 6 : 55-59. 1995
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| 17 | IDUA, MPS1
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| Mucopolysaccharidosis type I : identification of 13 novel mutations of the alpha-L-iduronidase gene.
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| Bunge S, et al.
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| Hum Mutat 6 : 91-94. 1995
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| 18 | MPS1, IDUA
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| Mutation analysis of 19 North American mucopolysaccharidosis type I patients : identification of two additional frequent mutations.
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| Clarke LA, et al.
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| Hum Mutat 3 : 275-282. 1994
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| 19 | IDUA, MPS1
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| A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).
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| Tieu PT, et al.
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| Hum Mutat 3 : 333-336. 1994
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| 20 | MPS1, IDUA
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| 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.
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| Bunge S, et al.
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| Hum Mol Genet 3 : 861-866. 1994
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| 21 | MPS1, IDUA
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| Mutation in Scheie syndrome (MPS IS) : a G-A transition creates new splice site in intron 5 of one IDUA allele.
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| Moskowitz SM, et al.
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| Hum Mutat 2 : 141-144. 1993
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| 22 | MPS1, IDUA
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| Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.
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| Clarke LA, et al.
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| Hum Mol Genet 2 : 1311-1312. 1993
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| 23 | IDUA, MPS1
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| Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA) : implications for a role in modification of MPS-I disease phenotype.
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| Scott HS, et al.
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| Hum Mol Genet 2 : 1471-1473. 1993
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| 24 | IDUA
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| Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.
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| Scott HS, et al.
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| Am J Hum Genet 53 : 973-986. 1993
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| 25 | IDUA
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| Mucopolysaccharidosis type I (Hurler syndrome) : linkage disequilibrium indicates the presence of a major allele.
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| Scott HS, et al.
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| Hum Genet 88 : 701-702. 1992
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| 26 | IDUA
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| Structure and sequence of the human alpha-L-iduronidase gene.
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| Scott HS, et al.
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| Genomics 13 : 1311-1313. 1992
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| 27 | IDUA
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| PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene.
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| Scott HS, et al.
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| Hum Genet 90 : 327. 1992
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| 28 | D4S111, IDUA
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| Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.
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| MacDonald ME, et al.
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| Somat Cell Mol Genet 17 : 421-425. 1991
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| 29 | IDUA
|
| PCR of a KpnI RFLP in the alpha-L-iduronidase (IDUA) gene.
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| Scott HS, et al.
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| Nucleic Acids Res 19 : 5796. 1991
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| 30 | IDUA, D4S111
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| PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease.
|
| Scott HS, et al.
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| Nucleic Acids Res 19 : 6348. 1991
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| 31 | IDUA
|
| Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.
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| Scott HS, et al.
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| Am J Hum Genet 47 : 802-807. 1990
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| 32 | IDUA
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| Regional chromosomal assignment of the structural gene for human alpha-L-iduronidase.
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| Schuchman EH, et al.
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| Proc Natl Acad Sci U S A 81 : 1169-1173. 1984
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| 33 | IDUA, MPS1
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| Allelism, nonallelism and genetic compounds among the mucopolysaccharidoses.
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| McKusick VA, et al.
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| Lancet I : 993-996. 1972
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| 34 | IDUA, MPS1
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| Hurler's syndrome, an alpha-L-iduronidase deficiency.
|
| Matalon R, et al.
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| Biochem Biophys Res Commun 47 : 959-964. 1972
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| 35 | IDUA, MPS1
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| The defect in the Hurler and Sche•e syndromes : deficiency of alpha-L-iduronidase.
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| Bach G, et al.
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| Proc Natl Acad Sci U S A 69 : 2048-2051. 1972
|