Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference28 articles.
1. 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;Hum Genet,2001
2. Prevalence of lysosomal storage disorders;Meikle;JAMA,1999
3. Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure;de Ru;Orphanet J Rare Dis,2011
4. Enzyme replacement therapy with laronidase (Aldurazyme) for treating mucopolysaccharidosis type I;Jameson;Cochrane Database Syst Rev,2016
5. Ocular manifestations in the mucopolysaccharidoses – a review;Ashworth;Clin Exp Ophthal,2010
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