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Journals / The Anatolian Journal of Cardiology / 2022 / Cilt: 26 - Sayı: 5

p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease

Serdar CEYLANER
Hasan Ali BARMAN
Serhan ÖZYILDIRIM
Memduh DURSUN
Adem ATICI
Sait Mesut DOĞAN
Pages
411–413
Publication Date
2022-10-18
DOI
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Cite This Article

CEYLANER, S., BARMAN, H. A., ÖZYILDIRIM, S., DURSUN, M., ATICI, A., DOĞAN, S. M. (2022). p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease. The Anatolian Journal of Cardiology, Cilt: 26 - Sayı: 5, 411–413. https://ajindex.com/articles/597199

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References (8)

  1. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry’s disease: ceramidetrihexosidase deficiency. N Engl J Med. 1967
  2. 276(21):1163-1167. [CrossRef] 2. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010
  3. Smid BE, van der Tol L, Biegstraaten M, Linthorst GE, Hollak CE, Poorthuis BJ. Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. J Med Genet. 2015
  4. 52(4):262-268. [CrossRef] 4. Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Investig. 2004
  5. 34(3):236-242. [CrossRef] 5. Barman HA, Özcan S, Atıcı A, et al. Ratio of Fabry disease in patients with idiopathic left ventricular hypertrophy: a singlecenter study in Turkey. Anatol J Cardiol. 2020
  6. 23(2):79-85. [CrossRef] 6. Roller FC, Fuest S, Meyer M, et al. Assessment of Cardiac Involvement in Fabry Disease (FD) with Native T1 Mapping. Rofo. 2019
  7. 191(10):932-939. 7. Schiffmann R, Fuller M, Clarke LA, Aerts JM. Is it Fabry disease? Genet Med. 2016
  8. 18(12):1181-1185. [CrossRef]