Dergiler / Bozok Tıp Dergisi / 2026 / Cilt: 8 Sayı: 2

CHANARİN DORFMAN SENDROMU: OLGU SUNUMU Chanarin Dorfman Syndrome: A Case Report

Sayfa
104–107
Yayın Tarihi
2018-06-29
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Bu Makaleye Atıf Yap

Göl, M. F. (2018). CHANARİN DORFMAN SENDROMU: OLGU SUNUMU Chanarin Dorfman Syndrome: A Case Report. Bozok Tıp Dergisi, Cilt: 8 Sayı: 2, 104–107. https://doi.org/10.16919/bozoktip.349928

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Kaynakça (10)

  1. Peña‐Penabad C, Almagro M, Martinez W, García‐Silva J, Del Pozo J, Yebra M, et al. Dorfman–Chanarin syndrome (neutral lipid storage disease): new clinical features. British J Dermatol. 2001;144(2):430-2
  2. Kaneko K, Kuroda H, Izumi R, Tateyama M, Kato M, Sugimura K, et al. A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review. Neuromusc Disorders. 2014;24(7):634-41
  3. Pujol R, Gilaberte M, Toll A, Florensa L, Lloreta J, González‐ Enseñat M, et al. Erythrokeratoderma variabilis‐like ichthyosis in Chanarin–Dorfman syndrome. British J Dermatol. 2005;153(4):838-41
  4. Çamlar SA, Gençpınar P, Makay B, Yüzbaşıoğlu A, Arslan N, Dökmeci SE, et al. Chanarin-dorfman syndrome with multi-system involvement in two siblings. Tur J Hematol. 2013;30(1):72
  5. Wollenberg A, Geiger E, Schaller M, Wolff H. Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils. Acta Derm Venereol. 2000;80(1):39-43
  6. Dorfman ML, Hershko C, Eisenberg S, Sagher F. Ichthyosiform dermatosis with systemic lipidosis. Arch of dermatol. 1974;110(2):261-6
  7. Chanarin I, Patel A, Slavin G, Wills E, Andrews T, Stewart G. Neutral-lipid storage disease: a new disorder of lipid metabolism. British med j. 1975;1(5957):553
  8. Gurakan F, Kaymaz F, Kocak N, Ors U, Yuce A, Atakan N. Case Report: A Cause of Fatty Liver: Neutral Lipid Storage Disease with Ichthyosis—Electron Microscopic Findings. Digestive diseases and sciences. 1999;44(11):2214-7
  9. Özkale Y, Erol İ, Canan O, Durdu M. Chanarin Dorfman Sendromu: Olgu Sunumu. Cukurova Med J. 2015;40(3):614-8. Turkish
  10. Bilge S, Çınar SM, Aykaç S, Eyiipgil T. Myopatili Nötral Lipit Depo Hastalığı Olgu Sunumu. Turgut Özal Tıp Merk Derg. 2009;16(2). Turkish.