Literature DB >> 23743524

Does the timing of treatment affect the ocular phenotype in patients with Mucopolysaccharidosis I homozygous for the L490P mutation?

W H Chan1, S Biswas, I C Lloyd, E Wraith, S Jones, J Mercer, J L Ashworth.   

Abstract

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Mesh：

Year:  2013        PMID： 23743524      PMCID： PMC3772352          DOI： 10.1038/eye.2013.109

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN： 0950-222X            Impact factor:   3.775


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  5 in total

1.  The ocular features of the mucopolysaccharidoses.

Authors:  J L Ashworth; S Biswas; E Wraith; I C Lloyd
Journal:  Eye (Lond)       Date:  2006-05       Impact factor: 3.775

2.  Ocular lesions in canine mucopolysaccharidosis I and response to enzyme replacement therapy.

Authors:  Kim M Newkirk; Rosalie M Atkins; Patti I Dickson; Barton W Rohrbach; Michael F McEntee
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-07-11       Impact factor: 4.799

3.  Enzyme-replacement therapy in mucopolysaccharidosis I.

Authors:  E D Kakkis; J Muenzer; G E Tiller; L Waber; J Belmont; M Passage; B Izykowski; J Phillips; R Doroshow; I Walot; R Hoft; E F Neufeld
Journal:  N Engl J Med       Date:  2001-01-18       Impact factor: 91.245

4.  Enzyme replacement therapy in 12 patients with MPS I-H/S with homozygous p.Leu490Pro mutation.

Authors:  R S Arora; J Mercer; M Thornley; K Tylee; J E Wraith
Journal:  J Inherit Metab Dis       Date:  2007-06-14       Impact factor: 4.982

5.  Ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy: a 4-year experience.

Authors:  Susanne Pitz; Olufunmilola Ogun; Manal Bajbouj; Laila Arash; Gudrun Schulze-Frenking; Michael Beck
Journal:  Arch Ophthalmol       Date:  2007-10
  5 in total
  1 in total

1.  Clinical ocular manifestations of Taiwanese patients with mucopolysaccharidoses VI (Maroteaux-Lamy syndrome).

Authors:  Hsu-Ying Lin; You-Hsin Huang; Shao-Yu Lei; Lee-Jen Chen; Shuan-Pei Lin
Journal:  Taiwan J Ophthalmol       Date:  2019-09-12
  1 in total

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