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The International Journal on Orbital Disorders, Oculoplastic and Lacrimal Surgery
Volume 30, 2011 - Issue 2
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Case Reports

Ptosis, Extraocular Motility Disorder, and Myopia as Features of Pompe Disease

Niki W.R. SlingerlandDepartment of Ophthalmology, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Centre, Rotterdam, The Netherlands
, MD,
Jan Roelof PollingDepartment of Ophthalmology, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Centre, Rotterdam, The Netherlands
, CO,
Catharina M. van GelderDept. of Paediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Centre, Rotterdam, The Netherlands
, MD,
Ans T. van der PloegDept. of Paediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Centre, Rotterdam, The Netherlands
, MD, PhD &
Isabel BleyenDepartment of Ophthalmology, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Centre, Rotterdam, The NetherlandsCorrespondence[email protected]
, MD, PhD
Pages 111-113 | Received 15 Jul 2010, Accepted 06 Dec 2010, Published online: 26 Mar 2011

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Ilka Schneider & Stephan Zierz. (2016) Profile of alglucosidase alfa in the treatment of Pompe disease: safety, efficacy, and patient acceptability. Research and Reports in Endocrine Disorders 6, pages 1-9.
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Articles from other publishers (12)

Amy T. Neel, Kelly D. Crisp, Priya S. Kishnani & Harrison N. Jones. (2023) Speech Disorders in Children With Pompe Disease: Articulation, Resonance, and Voice Measures. American Journal of Speech-Language Pathology 32:4, pages 1501-1516.
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Yi-Hua Chen, Pei-Wei Huang, Yu-Jen Liu & Yueh-Ju Tsai. (2023) Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes. Molecular Genetics and Metabolism Reports 35, pages 100969.
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Ulrich KisserJens HeichelAlexander Glien. (2021) Seltene Erkrankungen der Orbita. Laryngo-Rhino-Otologie 100:S 01, pages S1-S79.
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Sylvie Marion. (2019) Journée Française Maladie de Pompe : une neuvième édition riche de promesses. Les Cahiers de Myologie:19, pages 49-56.
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Priya S. Kishnani. (2015) Small-Fiber Neuropathy in Pompe Disease: First Reported Cases and Prospective Screening of a Clinic Cohort. American Journal of Case Reports 16, pages 196-201.
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E. Anagnostou, E. Kemanetzoglou, G. Papadimas, E. Kararizou & I. Evdokimidis. (2014) Extraocular muscle function in adult-onset Pompe disease tested by saccadic eye movements. Neuromuscular Disorders 24:12, pages 1073-1078.
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S. Grace Prakalapakorn, Alan D. Proia, Tammy L. Yanovitch, Stephanie DeArmey, Nancy J. Mendelsohn, Kyrieckos A. Aleck & Priya S. Kishnani. (2014) Ocular and Histologic Findings in a Series of Children With Infantile Pompe Disease Treated With Enzyme Replacement Therapy. Journal of Pediatric Ophthalmology & Strabismus 51:6, pages 355-362.
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Priya S. Kishnani, Hernán M. Amartino, Christopher Lindberg, Timothy M. Miller, Amanda Wilson & Joan Keutzer. (2014) Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry. Molecular Genetics and Metabolism 113:1-2, pages 84-91.
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Lisa D. Hobson-Webb, Harrison N. Jones & Priya S. Kishnani. (2013) Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement. Neuromuscular Disorders 23:4, pages 319-323.
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C. M. van Gelder, C. I. van Capelle, B. J. Ebbink, I. Moor-van Nugteren, J. M. P. van den Hout, M. M. Hakkesteegt, P. A. van Doorn, I. F. M. de Coo, A. J. J. Reuser, H. H. W. de Gier & A. T. van der Ploeg. (2011) Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy. Journal of Inherited Metabolic Disease 35:3, pages 505-511.
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Laura E. Case, Alexandra A. Beckemeyer & Priya S. Kishnani. (2012) Infantile Pompe disease on ERT-Update on clinical presentation, musculoskeletal management, and exercise considerations. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 160C:1, pages 69-79.
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Marian Kroos, Marianne Hoogeveen-Westerveld, Ans van der Ploeg & Arnold J.J. Reuser. (2012) The genotype-phenotype correlation in Pompe disease. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 160C:1, pages 59-68.
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