139 related articles for article (PubMed ID: 38250526)
21. Recombinant encapsulated cells overexpressing alpha-L-iduronidase correct enzyme deficiency in human mucopolysaccharidosis type I cells.
Baldo G; Quoos Mayer F; Burin M; Carrillo-Farga J; Matte U; Giugliani R
Cells Tissues Organs; 2012; 195(4):323-9. PubMed ID: 21778683
[TBL] [Abstract][Full Text] [Related]
22. Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
Peck DS; Lacey JM; White AL; Pino G; Studinski AL; Fisher R; Ahmad A; Spencer L; Viall S; Shallow N; Siemon A; Hamm JA; Murray BK; Jones KL; Gavrilov D; Oglesbee D; Raymond K; Matern D; Rinaldo P; Tortorelli S
Int J Neonatal Screen; 2020 Mar; 6(1):10. PubMed ID: 33073008
[TBL] [Abstract][Full Text] [Related]
23. Morphological damage in Sertoli, myoid and interstitial cells in a mouse model of mucopolysaccharidosis type I (MPS I).
do Nascimento CC; Aguiar O; Viana GM; D'Almeida V
Mol Biol Rep; 2021 Jan; 48(1):363-370. PubMed ID: 33319323
[TBL] [Abstract][Full Text] [Related]
24. Differences in MPS I and MPS II Disease Manifestations.
Hampe CS; Yund BD; Orchard PJ; Lund TC; Wesley J; McIvor RS
Int J Mol Sci; 2021 Jul; 22(15):. PubMed ID: 34360653
[TBL] [Abstract][Full Text] [Related]
25. Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.
Chkioua L; Boudabous H; Jaballi I; Grissa O; Turkia HB; Tebib N; Laradi S
Diagn Pathol; 2018 May; 13(1):35. PubMed ID: 29843745
[TBL] [Abstract][Full Text] [Related]
26. Glycosaminoglycan fragments as a measure of disease burden in the mucopolysaccharidosis type I mouse.
Saville JT; McDermott BK; Fuller M
Mol Genet Metab; 2018 Feb; 123(2):112-117. PubMed ID: 29273385
[TBL] [Abstract][Full Text] [Related]
27. Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats.
He X; Li CM; Simonaro CM; Wan Q; Haskins ME; Desnick RJ; Schuchman EH
Mol Genet Metab; 1999 Jun; 67(2):106-12. PubMed ID: 10356309
[TBL] [Abstract][Full Text] [Related]
28. 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; 2011 Oct; 286(43):37515-24. PubMed ID: 21873421
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I.
Faller KME; Ridyard AE; Gutierrez-Quintana R; Rupp A; Kun-Rodrigues C; Orme T; Tylee KL; Church HJ; Guerreiro R; Bras J
J Vet Intern Med; 2020 Sep; 34(5):1813-1824. PubMed ID: 32785987
[TBL] [Abstract][Full Text] [Related]
31. Structure and sequence of the human alpha-L-iduronidase gene.
Scott HS; Guo XH; Hopwood JJ; Morris CP
Genomics; 1992 Aug; 13(4):1311-3. PubMed ID: 1505961
[TBL] [Abstract][Full Text] [Related]
32. Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I.
Tomatsu S; Montaño AM; Oguma T; Dung VC; Oikawa H; de Carvalho TG; Gutiérrez ML; Yamaguchi S; Suzuki Y; Fukushi M; Sakura N; Barrera L; Kida K; Kubota M; Orii T
J Inherit Metab Dis; 2010 Apr; 33(2):141-50. PubMed ID: 20162367
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.
Ngiwsara L; Ketudat-Cairns JR; Sawangareetrakul P; Charoenwattanasatien R; Champattanachai V; Kuptanon C; Pangkanon S; Tim-Aroon T; Wattanasirichaigoon D; Svasti J
Ann Hum Genet; 2018 May; 82(3):150-157. PubMed ID: 29282708
[TBL] [Abstract][Full Text] [Related]
35. Characterization and downstream mannose phosphorylation of human recombinant α-L-iduronidase produced in Arabidopsis complex glycan-deficient (cgl) seeds.
He X; Pierce O; Haselhorst T; von Itzstein M; Kolarich D; Packer NH; Gloster TM; Vocadlo DJ; Qian Y; Brooks D; Kermode AR
Plant Biotechnol J; 2013 Dec; 11(9):1034-43. PubMed ID: 23898885
[TBL] [Abstract][Full Text] [Related]
36. RTB lectin-mediated delivery of lysosomal α-l-iduronidase mitigates disease manifestations systemically including the central nervous system.
Ou L; Przybilla MJ; Koniar B; Whitley CB
Mol Genet Metab; 2018 Feb; 123(2):105-111. PubMed ID: 29198892
[TBL] [Abstract][Full Text] [Related]
37. Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system.
Kim S; Przybilla MJ; Whitley CB; Ou L; Al-Kofahi M; Jarnes JR
Mol Genet Metab Rep; 2022 Dec; 33():100917. PubMed ID: 36159322
[TBL] [Abstract][Full Text] [Related]
38. N-glycan structures and downstream mannose-phosphorylation of plant recombinant human alpha-L-iduronidase: toward development of enzyme replacement therapy for mucopolysaccharidosis I.
Pierce OM; McNair GR; He X; Kajiura H; Fujiyama K; Kermode AR
Plant Mol Biol; 2017 Dec; 95(6):593-606. PubMed ID: 29119347
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. A homology model for human alpha-l-iduronidase: insights into human disease.
Rempel BP; Clarke LA; Withers SG
Mol Genet Metab; 2005 May; 85(1):28-37. PubMed ID: 15862278
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]