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