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Review

Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses

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Pages 1633-1644 | Published online: 07 Sep 2015

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (5)

Tanya Kowalski, Sarah Donoghue, Gerard de Jong & Heather G. Mack. (2022) Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI. Ophthalmic Genetics 43:5, pages 693-698.
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Tanya Kowalski, Jonathan B Ruddle, Gerard de Jong & Heather G Mack. (2021) Expanding the phenotype of mucopolysaccharidosis type II retinopathy. Ophthalmic Genetics 42:5, pages 631-636.
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Azam Safary, Hakimeh Moghaddas-Sani, Mostafa Akbarzadeh-Khiavi, Alireza Khabbazzi, Mohammad A. Rafi & Yadollah Omidi. (2021) Enzyme replacement combinational therapy: effective treatments for mucopolysaccharidoses. Expert Opinion on Biological Therapy 21:9, pages 1181-1197.
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Sean M. Gratton & Thanuja Neerukonda. (2019) Mucopolysaccharidosis Type I and Bilateral Optic Disc Edema. Neuro-Ophthalmology 43:6, pages 394-396.
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A. Bruscolini, G. M. Amorelli, P. Rama, A. Lambiase, M. La Cava & A. Abbouda. (2017) Involvement of the Anterior Segment of the Eye in Patients with Mucopolysaccharidoses: A Review of Reported Cases and Updates on the Latest Diagnostic Instrumentation. Seminars in Ophthalmology 32:6, pages 707-714.
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Ariel Nenninger, Gil Ben‐Shlomo, Rachel Allbaugh, Bethann Valentine, Elizabeth Snella, Jackie Jens, N. Matthew Ellinwood & Jodi Smith. (2023) Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I. Journal of Inherited Metabolic Disease 46:2, pages 348-357.
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Faizal Z. Asumda, Jessica A. Kraker, Sarah C. Thomas, Joseph Maleszewski, Edwin M. Stone, Brendan C. Lanpher & Lisa A. Schimmenti. (2023) Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report. Therapeutic Advances in Rare Disease 4, pages 263300402211459.
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Stefania Costi, Roberto Felice Caporali & Achille Marino. (2022) Mucopolysaccharidosis: What Pediatric Rheumatologists and Orthopedics Need to Know. Diagnostics 13:1, pages 75.
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Christoph Spartalis, Simon Dulz & Yevgeniya Atiskova. (2022) Bilateral penetrating keratoplasty revealed advanced glaucoma in a case of mucopolysaccharidosis type VI. Journal of Case Reports and Images in Ophthalmology 5:2, pages 11-15.
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Surbhi Khurana, Parul Chawla Gupta, Ranjan Kumar Behera, Himanshi Singh & Jagat Ram. (2021) Corneal Cloudiness: A Presenting Feature of Mucopolysaccharidosis Type I. Indian Journal of Pediatrics 89:3, pages 291-291.
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Eugeni Entchev, Sophie Antonelli, Virginie Mauro, Nicolas Cimbolini, Ingrid Jantzen, Aurelie Roussey, Jeanne-Marie Germain, Haoyue Zhang, Jean-Michel Luccarrini, Olivier Lacombe, Sarah P. Young, Laurence Feraille & Mireille Tallandier. (2022) MPS VI associated ocular phenotypes in an MPS VI murine model and the therapeutic effects of odiparcil treatment. Molecular Genetics and Metabolism 135:2, pages 143-153.
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Olivia Esteban, Miguel Angel Torralba, Susana Olivera, Mireya Martinez, Paula Montes, Sara Marco & Javier Ascaso. (2021) New correlations between ocular parameters and disease severity in Spanish patients with Gaucher’s disease Type I. PLOS ONE 16:12, pages e0260241.
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Daniel A. Balikov, Adam Jacobson & Lev Prasov. (2021) Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders. Genes 12:9, pages 1403.
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Orlaith McGrath, Leon Au & Jane Ashworth. (2021) Management of Corneal Clouding in Patients with Mucopolysaccharidosis. Journal of Clinical Medicine 10:15, pages 3263.
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