Yıl: 2023 Cilt: 48 Sayı: 2 Sayfa Aralığı: 733 - 736 Metin Dili: İngilizce DOI: 10.17826/cumj.1219901 İndeks Tarihi: 28-09-2023

Pituitary dysfunction of the patient with Fabry disease: an unusual presentation

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Hipofizer disfonksiyonu olan Fabry hastası: alışılmadık bir görünüm

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  • 1. Pisani, B. Visciano, G.D. Roux, M. Sabbatini, C. Porto, G. Parenti, M. Imbriaco, Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature. Mol Genet Metab. 2012;107:267–75.
  • 2. Van der Tol L, Cassiman D, Houge G. Uncertain diagnosis of Fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up. JIMD Rep. 2014;17:83–90.
  • 3. Pasqualim G, Simon L, Sperb-Ludwig F. Fabry disease: a new approach for the screening of females in high-risk groups. Clin Biochem. 2014;47:657–62.
  • 4. Yogasundaram H, Kim D, Oudit O, Thompson RB, Weidemann F, Oudit GY. Clinical features, diagnosis, and management of patients with Anderson-Fabry cardiomyopathy. Can J Cardiol. 2017,33:883–97.
  • 5. Rombach S , Dekker N, Bouwman M, Linthorst G, Zwinderman A, Wijburg F et al. Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta Mol Basis Dis. 2010,1802:741– 8.
  • 6. Choi L, Vernon J, Kopach O, Minett M, Mills K et al. The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain. Neurosci Lett. 2015,594:163–68.
  • 7. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
  • 8. Tojo K, Oota M, Honda H, Shibasaki T, Sakai O. Possible thyroidal involvement in a case of Fabry disease. Intern Med. 1994;33:172–76.
  • 9. Nistal M, Paniagua R, Picazo ML. Testicular and epididymal involvement in Fabry’s disease. J. Pathol. 1983;141:113–24.
  • 10. Faggiano A, Severino R, Ramundo V, Russo R, Vuolo L, Del Prete M et al. Thyroid function in Fabry disease before and after enzyme replacement therapy. Minerva Endocrinol. 2011;36:1-5.
  • 11. Faggiano A, Pisani A, Milone F, Gaccione M, Filippella M, Santoro A et al. Endocrine dysfunction in patients with Fabry disease. J Clin Endocrinol Metab. 2006;91:4319-25..
  • 12. Maione L, Tortora F, Modica R, Ramundo V. Pituitary function and morphology in Fabry disease. Endocrine. 2015;50:483-88.
APA Akkuş G, Paydas S (2023). Pituitary dysfunction of the patient with Fabry disease: an unusual presentation. , 733 - 736. 10.17826/cumj.1219901
Chicago Akkuş Gamze,Paydas Saime Pituitary dysfunction of the patient with Fabry disease: an unusual presentation. (2023): 733 - 736. 10.17826/cumj.1219901
MLA Akkuş Gamze,Paydas Saime Pituitary dysfunction of the patient with Fabry disease: an unusual presentation. , 2023, ss.733 - 736. 10.17826/cumj.1219901
AMA Akkuş G,Paydas S Pituitary dysfunction of the patient with Fabry disease: an unusual presentation. . 2023; 733 - 736. 10.17826/cumj.1219901
Vancouver Akkuş G,Paydas S Pituitary dysfunction of the patient with Fabry disease: an unusual presentation. . 2023; 733 - 736. 10.17826/cumj.1219901
IEEE Akkuş G,Paydas S "Pituitary dysfunction of the patient with Fabry disease: an unusual presentation." , ss.733 - 736, 2023. 10.17826/cumj.1219901
ISNAD Akkuş, Gamze - Paydas, Saime. "Pituitary dysfunction of the patient with Fabry disease: an unusual presentation". (2023), 733-736. https://doi.org/10.17826/cumj.1219901
APA Akkuş G, Paydas S (2023). Pituitary dysfunction of the patient with Fabry disease: an unusual presentation. Cukurova Medical Journal, 48(2), 733 - 736. 10.17826/cumj.1219901
Chicago Akkuş Gamze,Paydas Saime Pituitary dysfunction of the patient with Fabry disease: an unusual presentation. Cukurova Medical Journal 48, no.2 (2023): 733 - 736. 10.17826/cumj.1219901
MLA Akkuş Gamze,Paydas Saime Pituitary dysfunction of the patient with Fabry disease: an unusual presentation. Cukurova Medical Journal, vol.48, no.2, 2023, ss.733 - 736. 10.17826/cumj.1219901
AMA Akkuş G,Paydas S Pituitary dysfunction of the patient with Fabry disease: an unusual presentation. Cukurova Medical Journal. 2023; 48(2): 733 - 736. 10.17826/cumj.1219901
Vancouver Akkuş G,Paydas S Pituitary dysfunction of the patient with Fabry disease: an unusual presentation. Cukurova Medical Journal. 2023; 48(2): 733 - 736. 10.17826/cumj.1219901
IEEE Akkuş G,Paydas S "Pituitary dysfunction of the patient with Fabry disease: an unusual presentation." Cukurova Medical Journal, 48, ss.733 - 736, 2023. 10.17826/cumj.1219901
ISNAD Akkuş, Gamze - Paydas, Saime. "Pituitary dysfunction of the patient with Fabry disease: an unusual presentation". Cukurova Medical Journal 48/2 (2023), 733-736. https://doi.org/10.17826/cumj.1219901