Yıl: 2020 Cilt: 37 Sayı: 4 Sayfa Aralığı: 299 - 300 Metin Dili: İngilizce DOI: 10.4274/tjh.galenos.2020.2020.0242 İndeks Tarihi: 05-07-2021

Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome

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Anahtar Kelime:

Chanarin-Dorfman Sendromlu Bir Çocukta Periferik Yaymada Vakuollü Lökositler

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Belge Türü: Makale Makale Türü: Editöre Mektup Erişim Türü: Erişime Açık
  • 1. Bruno C, Bertini E, Di Rocco M, Cassandrini D, Ruffa G, De Toni T, Seri M, Spada M, Li Volti G, D’Amico A, Trucco F, Arca M, Casali C, Angelini C, Dimauro S, Minetti C. Clinical and genetic characterization of ChanarinDorfman syndrome. Biochem Biophys Res Commun 2008;369:1125-1128.
  • 2. Arslansoyu Çamlar S, Gençpınar P, Makay B, Yüzbaşıoğlu A, Arslan N, Emre Dökmeci S, Anal O, Köse G. Chanarin-Dorfman syndrome with multi-system involvement in two siblings. Turk J Hematol 2013;30:72-75.
  • 3. Akiyama M, Sawamura D, Nomura Y, Sugawara M, Shimizu H. Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. J Invest Dermatol 2003;121:1029-1034.
  • 4. Eskiocak AH, Missaglia S, Moro L, Durdu M, Tavian D. A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings. Lipids Health Dis 2019;18:232-237.
  • 5. Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozgüc M, Lathrop M, Prud’homme JF, Fischer J. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 2001;69:1002-1012.
  • 6. Barnérias C, Bassez G, Schischmanoff O. Chanarin-Dorfman syndrome in a 7-year-old child: when myophathy and skin involvement are all but one. Med Sci 2015;31:11-13.
  • 7. Redaelli C, Coleman RA, Moro L, Dacou-Voutetakis C, Elsayed SM, Prati D, Colli A, Mela D, Colombo R, Tavian D. Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene. Orphanet J Rare Dis 2010;5:33.
  • 8. Mitra S, Samanta M, Sarkar M, Chatterjee S. Dorfman-Chanarin syndrome: A rare neutral lipid storage disease. Indian J Pathol Microbiol 2010;53:799- 801.
  • 9. Tavian D, Colombo R. Improved cytochemical method for detecting Jordans’ bodies in neutral lipid storage diseases. J Clin Pathol 2007;60:956-958.
APA Akçay A, Sahin F, Sen A (2020). Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome. , 299 - 300. 10.4274/tjh.galenos.2020.2020.0242
Chicago Akçay Arzu,Sahin Filiz Demir,Sen Askin Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome. (2020): 299 - 300. 10.4274/tjh.galenos.2020.2020.0242
MLA Akçay Arzu,Sahin Filiz Demir,Sen Askin Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome. , 2020, ss.299 - 300. 10.4274/tjh.galenos.2020.2020.0242
AMA Akçay A,Sahin F,Sen A Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome. . 2020; 299 - 300. 10.4274/tjh.galenos.2020.2020.0242
Vancouver Akçay A,Sahin F,Sen A Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome. . 2020; 299 - 300. 10.4274/tjh.galenos.2020.2020.0242
IEEE Akçay A,Sahin F,Sen A "Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome." , ss.299 - 300, 2020. 10.4274/tjh.galenos.2020.2020.0242
ISNAD Akçay, Arzu vd. "Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome". (2020), 299-300. https://doi.org/10.4274/tjh.galenos.2020.2020.0242
APA Akçay A, Sahin F, Sen A (2020). Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome. Turkish Journal of Hematology, 37(4), 299 - 300. 10.4274/tjh.galenos.2020.2020.0242
Chicago Akçay Arzu,Sahin Filiz Demir,Sen Askin Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome. Turkish Journal of Hematology 37, no.4 (2020): 299 - 300. 10.4274/tjh.galenos.2020.2020.0242
MLA Akçay Arzu,Sahin Filiz Demir,Sen Askin Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome. Turkish Journal of Hematology, vol.37, no.4, 2020, ss.299 - 300. 10.4274/tjh.galenos.2020.2020.0242
AMA Akçay A,Sahin F,Sen A Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome. Turkish Journal of Hematology. 2020; 37(4): 299 - 300. 10.4274/tjh.galenos.2020.2020.0242
Vancouver Akçay A,Sahin F,Sen A Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome. Turkish Journal of Hematology. 2020; 37(4): 299 - 300. 10.4274/tjh.galenos.2020.2020.0242
IEEE Akçay A,Sahin F,Sen A "Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome." Turkish Journal of Hematology, 37, ss.299 - 300, 2020. 10.4274/tjh.galenos.2020.2020.0242
ISNAD Akçay, Arzu vd. "Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome". Turkish Journal of Hematology 37/4 (2020), 299-300. https://doi.org/10.4274/tjh.galenos.2020.2020.0242