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Neuro-Ophthalmology Volume 43, 2019 - Issue 6
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Case Reports

Mucopolysaccharidosis Type I and Bilateral Optic Disc Edema

Sean M. GrattonDepartments of Neurology and Ophthalmology, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USACorrespondence[email protected]
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Thanuja NeerukondaUniversity of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USAView further author information
Pages 394-396 | Received 29 Jun 2018, Accepted 04 Sep 2018, Published online: 05 Oct 2018

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Lawrencia Kimera, Sameera Nadimpalli, Sudhi Kurup, F. Sessions Cole, Russell Huang, Kathleen Sisco, Hantamalala Ranay Ranaivo, Marwan Shinawi, Patricia Dickson, Ali Mian, Margaret Reynolds & Undiagnosed Diseases Network. Case report: ocular manifestations of a gain-of-function mutation in CLCN6, a newly diagnosed disease. Ophthalmic Genetics 0:0, pages 1-4.
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Articles from other publishers (3)

Laryssa A. Huryn, Christina Torres Kozycki, Jasmine Y. Serpen, Wadih M. Zein, Ehsan Ullah, Alessandro Iannaccone, Lloyd B. Williams, Lucia Sobrin, Brian P. Brooks, H. Nida Sen, Robert B. Hufnagel, Daniel L. Kastner & Shilpa Kodati. (2023) Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy. Ophthalmology 130:4, pages 423-432.
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S. Huang, T. Lund, P. Orchard, A. Gupta & D. Nascene. (2023) Dilated Optic Nerve Sheath in Mucopolysaccharidosis I: Common and Not Necessarily High Intracranial Pressure. American Journal of Neuroradiology 44:1, pages 91-94.
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Christiane S. Hampe, Julie B. Eisengart, Troy C. Lund, Paul J. Orchard, Monika Swietlicka, Jacob Wesley & R. Scott McIvor. (2020) Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology. Cells 9:8, pages 1838.
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