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1Academic Journal
Authors: Tuy Nga Brignol, J. Andoni Urtizberea
Source: Neuromuscular Diseases; Том 5, № 1 (2015); 19-24 ; Нервно-мышечные болезни; Том 5, № 1 (2015); 19-24 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2015-5-1
Subject Terms: птоз, glycogenosis type II, lysosomal storage disease, infantile-onset Pompe disease, late-onset Pompe disease, α-glucosidase, enzyme replacement therapy, extraocular motility disorder, ophthalmopathy, ptosism strabismus, myopia, гликогеноз II типа, лизосомальные болезни накопления, инфантильная форма болезни Помпе, болезнь Помпе с поздним дебютом, α-глюкозидаза, ферментная заместительная терапия, экстраокулярные двигательные расстройства, офтальмопатия
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Relation: https://nmb.abvpress.ru/jour/article/view/106/100; Smith R.S., Reinecke R.D. Electron microscopy of ocular muscle in type II glycogenosis (Pompe's disease). Am J Ophthalmol 1972;73(6):965–70.; Libert J., Martin J.J., Ceuterick C. et al. Ocular ultrastructural study in a fetus with type II glycogenosis. Br J Ophthalmol 1977; 61(7):476–82.; Goebel H.H., Kohlschütter A., Pilz H. Ultrastructural observations on the retina in type II glycogenosis (Pompe's disease). Ophthalmologica 1978;176(2):61–8.; Barnes D., Hughes R.A., Spencer G.T. Adult-onset acid maltase deficiency with prominent bulbar involvement and ptosis. J R Soc Med 1993;86(1):50.; De Wilde F., D'Haens M., Smet H. et al. Surgical treatment of myogenic blepharoptosis. Bull Soc Belge Ophtalmol 1995;255: 139–46.; Groen W.B., Leen W.G., Vos A.M. et al. Ptosis as a feature of late-onset glycogenosis type II. Neurology 2006;67(12):2261–2.; Ravaglia S., Repetto A., De Filippi P. et al. Ptosis as a feature of late-onset glycogenosis type II. Neurology 2007;69(1):116.; Yanovitch T.L., Banugaria S.G., Proia A.D. et al. Clinical and histologic ocular findings in Pompe disease. J Pediatr Ophthalmol Strabismus 2010;47(1):34–40.; Slingerland N.W., Polling J.R., van Gelder C.M. et al. Ptosis, extraocular motility disorder, and myopia as features of pompe disease. Orbit 2011;30(2):111–3.; Chien Y.H., Lee N.C., Tsai Y.J. et al. Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantileonset Pompe disease. Muscle Nerve 2014;50(2):301–2.; Ravaglia S., Bini P., Garaghani K.S. et al. Ptosis in Pompe disease: common genetic background in infantile and adult series. J Neuroophthalmol 2010;30(4):389–90.; Prakalapakorn S.G., Proia A.D., Yanovitch T.L. et al. Ocular and histologic findings in a series of children with infantile Pompe disease treated with enzyme replacement therapy. J Pediatr Ophthalmol Strabismus 2014;51(6):355–62.; Anagnostou E., Kemanetzoglou E., Papadimas G. Extraocular muscle function in adult-onset Pompe disease tested by saccadic eye movements. Neuromuscul Disord 2014; 24(12):1073–8.; Yanovitch T.L., Casey R., Banugaria S.G. et al. Improvement of bilateral ptosis on higher dose enzyme replacement therapy in Pompe disease. J Neuroophthalmol 2010;30(2): 165–6.; Toussaint D., Danis P. Eye histopathology study of a case of generalized glycogenosis (Pompe disease). Bull Soc Belge Ophtalmol 1964;137:313–25.; Pokorny K.S., Ritch R., Friedman A.H. et al. Ultrastructure of the eye in fetal type II glycogenosis (Pompe's disease). Invest Ophthalmol Vis Sci 1982;22(1):25–31.; van der Walt J.D., Swash M., Leake J. et al. The pattern of involvement of adult-onset acid maltase deficiency at autopsy. Muscle Nerve 1987;10(3):272–81.; Toussaint D., Danis P. Ocular histopathology in generalized glycogenosis (Pompe disease). Arch Ophthalmol 1965;73:342–9.; Kishnani P.S., Steiner R.D., Bali D. et al. Pompe disease diagnosis and management guideline. Genet Med 2006;8(5):267–88.; https://nmb.abvpress.ru/jour/article/view/106