210 related articles for article (PubMed ID: 28676128)
1. Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.
Ou L; Przybilla MJ; Whitley CB
Orphanet J Rare Dis; 2017 Jul; 12(1):125. PubMed ID: 28676128
[TBL] [Abstract][Full Text] [Related]
2. Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
Yogalingam G; Guo XH; Muller VJ; Brooks DA; Clements PR; Kakkis ED; Hopwood JJ
Hum Mutat; 2004 Sep; 24(3):199-207. PubMed ID: 15300847
[TBL] [Abstract][Full Text] [Related]
3. An Integrated Computational Framework to Assess the Mutational Landscape of α-L-Iduronidase IDUA Gene.
Tanwar H; George Priya Doss C
J Cell Biochem; 2018 Jan; 119(1):555-565. PubMed ID: 28608934
[TBL] [Abstract][Full Text] [Related]
4. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
Scott HS; Bunge S; Gal A; Clarke LA; Morris CP; Hopwood JJ
Hum Mutat; 1995; 6(4):288-302. PubMed ID: 8680403
[TBL] [Abstract][Full Text] [Related]
5. alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
Scott HS; Litjens T; Nelson PV; Brooks DA; Hopwood JJ; Morris CP
Hum Mutat; 1992; 1(4):333-9. PubMed ID: 1301941
[TBL] [Abstract][Full Text] [Related]
6. 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.
Kwak MJ; Huh R; Kim J; Park HD; Cho SY; Jin DK
BMC Med Genet; 2016 Aug; 17(1):58. PubMed ID: 27520059
[TBL] [Abstract][Full Text] [Related]
7. Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
Clarke LA; Giugliani R; Guffon N; Jones SA; Keenan HA; Munoz-Rojas MV; Okuyama T; Viskochil D; Whitley CB; Wijburg FA; Muenzer J
Clin Genet; 2019 Oct; 96(4):281-289. PubMed ID: 31194252
[TBL] [Abstract][Full Text] [Related]
8. Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.
Wang D; Shukla C; Liu X; Schoeb TR; Clarke LA; Bedwell DM; Keeling KM
Mol Genet Metab; 2010 Jan; 99(1):62-71. PubMed ID: 19751987
[TBL] [Abstract][Full Text] [Related]
9. [Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I].
Wang XN; Wei M; Shi HP; Qiu ZQ; Yao FX; Meng Y; Zhang WM
Zhonghua Er Ke Za Zhi; 2011 Apr; 49(4):306-10. PubMed ID: 21624210
[TBL] [Abstract][Full Text] [Related]
10. Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.
Clarke LA; Nelson PV; Warrington CL; Morris CP; Hopwood JJ; Scott HS
Hum Mutat; 1994; 3(3):275-82. PubMed ID: 8019563
[TBL] [Abstract][Full Text] [Related]
11. Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I.
Swaroop M; Brooks MJ; Gieser L; Swaroop A; Zheng W
Hum Mol Genet; 2018 Oct; 27(20):3612-3626. PubMed ID: 30052969
[TBL] [Abstract][Full Text] [Related]
12. IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
Ghosh A; Mercer J; Mackinnon S; Yue WW; Church H; Beesley CE; Broomfield A; Jones SA; Tylee K
Hum Mutat; 2017 Nov; 38(11):1555-1568. PubMed ID: 28752568
[TBL] [Abstract][Full Text] [Related]
13. Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.
Oussoren E; Keulemans J; van Diggelen OP; Oemardien LF; Timmermans RG; van der Ploeg AT; Ruijter GJ
Mol Genet Metab; 2013 Aug; 109(4):377-81. PubMed ID: 23786846
[TBL] [Abstract][Full Text] [Related]
14. c.1898C>G/p.Ser633Trp Mutation in Alpha-L-Iduronidase: Clinical and Structural Implications.
Peña-Gomar I; Jiménez-Mariscal JL; Cerón M; Rosas-Trigueros J; Reyes-López CA
Protein J; 2021 Feb; 40(1):68-77. PubMed ID: 33389473
[TBL] [Abstract][Full Text] [Related]
15. Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.
Chkioua L; Khedhiri S; Turkia HB; Tcheng R; Froissart R; Chahed H; Ferchichi S; Ben Dridi MF; Vianey-Saban C; Laradi S; Miled A
Diagn Pathol; 2011 Jun; 6():47. PubMed ID: 21639919
[TBL] [Abstract][Full Text] [Related]
16. Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.
Uttarilli A; Ranganath P; Matta D; Md Nurul Jain J; Prasad K; Babu AS; Girisha KM; Verma IC; Phadke SR; Mandal K; Puri RD; Aggarwal S; Danda S; Sankar VH; Kapoor S; Bhat M; Gowrishankar K; Hasan AQ; Nair M; Nampoothiri S; Dalal A
Clin Genet; 2016 Dec; 90(6):496-508. PubMed ID: 27146977
[TBL] [Abstract][Full Text] [Related]
17. A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
Scott HS; Litjens T; Hopwood JJ; Morris CP
Hum Mutat; 1992; 1(2):103-8. PubMed ID: 1301196
[TBL] [Abstract][Full Text] [Related]
18. Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.
Matte U; Yogalingam G; Brooks D; Leistner S; Schwartz I; Lima L; Norato DY; Brum JM; Beesley C; Winchester B; Giugliani R; Hopwood JJ
Mol Genet Metab; 2003 Jan; 78(1):37-43. PubMed ID: 12559846
[TBL] [Abstract][Full Text] [Related]
19. alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.
Hein LK; Bawden M; Muller VJ; Sillence D; Hopwood JJ; Brooks DA
J Mol Biol; 2004 Apr; 338(3):453-62. PubMed ID: 15081804
[TBL] [Abstract][Full Text] [Related]
20. Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.
Bunge S; Clements PR; Byers S; Kleijer WJ; Brooks DA; Hopwood JJ
Biochim Biophys Acta; 1998 Sep; 1407(3):249-56. PubMed ID: 9748610
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
