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1/2025
vol. 127 Artykuł przeglądowy
Mukopolisacharydoza u dzieci widziana okiem okulisty
Mirosława Grałek
1
,
Anna Niwald
1
,
Katarzyna Piasecka
1
KLINIKA OCZNA 2025, 127, 1: 1-5
Data publikacji online: 2024/07/09
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1. Khan SA, Peracha H, Ballhausen D i wsp. Epidemiology of mucopolysaccharidoses. Mol Genet Metab 2017; 121: 227-240. 2.
Iozzo RV, Schaefer L. Proteoglycan form and function: A comprehensive nomenclature of proteoglycans. Matrix Biol 2015; 42: 11-55. 3.
Wiśniewska K, Wolski J, Gaffke L i wsp. Misdiagnosis in mucopolysaccharidoses. J Appl Genet 2022; 63: 475-495. 4.
Lin HY, Lin SP, Chuang CK i wsp. Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004. Am J Med Genet Am 2009; 149A: 960-964. 5.
Jurecka A, Ługowska A, Golda A i wsp. Prevalence rates of mucopolysaccharidoses in Poland. J Appl Genet 2015; 56: 205-210. 6.
Nagpal R, Goyal RB, Priyadarshini K i wsp. Mucopolysaccharidosis: A broad review. Indian J Ophthalmol 2022; 70: 2249-2261. 7.
Lin HY, Chan WC, Chen LJ i wsp. Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharydoses. Mol Genet Genomic Med 2019; 7: e00617. 8.
Giugliani R, Harmatz P, Lin SP, Scarpa M. Assessing the impact of the five senses on quality of life in mucopolysaccharidoses. Orphanet J Rare Dis 2020; 15: 97. 9.
Tomatsu S, Pitz S, Hampel U. Ophthalmological findings in mucopolysaccharidoses. J Clin Med 2019; 8: 1467. 10.
Ashworth JL, Biswas S, Wraith E, Lloyd IC. Mucopolysaccharidoses and the eye. Surv Ophthalmol 2006; 51: 1-17. 11.
Ashworth JL, Kruse FE, Bachmann B i wsp. Ocular manifestations in the mucopolysaccharidoses – a review. Clin Experiment Ophthalmol 2010; 38: 12-22. 12.
Ferrai S, Ponzin D, Ashworth JL i wsp. Diagnosis and management of ophthalmological features in patients with mucopolysaccharydosis. Br J Ophtghalmol 2011; 95: 613-619. 13.
Villas-Bôas FS, Filho DJF, Acosta AX. Ocular findings in patients with muccopolysaccharidosis. Arq Bras Oftalmol 2011; 74: 430-434. 14.
Modrzejewska M, Kotl A, Wiśniewska A, Giżewska M. Mukopolisacharydoza a narząd wzroku. Klin Oczna 2013; 115: 152-157. 15.
Fenzl CR, Teramoto K, Moshirfar M. Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses. Clin Ophthalmol 2015; 7: 1633-1644. 16.
Javed A, Aslam T, Jones SA, Ashworth J. Objective Quantification of Changes in Corneal Clouding Over Time in Patients With Mucopolysaccharidosis. Invest Ophthalmol Vis Sci 2017; 58: 954-958. 17.
Kong W, Zhang J, Lu C, Ding Y, Meng Y. Glaucoma in mucopolysaccharidoses. Orphanet J Rare Dis 2021; 16: 312. 18.
Summers CG, Ashworth JL. Ocular manifestations as key features for diagnosing mucopolysaccharidoses. Rheumatology (Oxford) 2011; 50 Suppl 5: v34-40. 19.
Ashworth J, Flaherty M, Pitz S, Ramlee A. Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis. Acta Ophthalmol 2015; 93: e111-117. 20.
Del Longo A, Piozzi E, Schweizer F. Ocular features in mucopolysaccharidosis: diagnosis and treatment. Ital J Pediatr 2018; 44 (Suppl 2): 125. 21.
Prusek K, Kucharz E. Enzymatyczna terapia zastępcza w leczeniu mukopolisacharydoz. Reumatologia 2011; 49: 122-125. 22.
Ohden KL, Pitz S, Ashworth J i wsp. Outcomes of keratoplasty in the mucopolysaccharidoses: an international perspective. Br J Ophthalmol 2017; 101: 909-912. 23.
Hallal R Jr, Armstrong GW, Pineda R. Long-Term Outcomes of Big Bubble Deep Anterior Lamellar Keratoplasty in Mucopolysaccharidoses: A Retrospective Case Series and Review of the Literature. Cornea 2022; 41: 809-814.
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