메뉴 건너뛰기




Volumn 53, Issue 4, 2010, Pages 799-801

Dorfman-Chanarin syndrome: A rare neutral lipid storage disease

Author keywords

CGI 58; Dorfman Chanarin syndrome; ichthyosis; Jordan's anomaly; leucocyte vacuoles

Indexed keywords

ALPHA TOCOPHEROL; UREA; URSODEOXYCHOLIC ACID;

EID: 78149380602     PISSN: 03774929     EISSN: 09745130     Source Type: Journal    
DOI: 10.4103/0377-4929.72098     Document Type: Article
Times cited : (12)

References (15)
  • 1
    • 78149404919 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, Md. MIM Number 275630. Available from. [last accessed on 2009 Oct 24]
    • Chanarin-Dorfmann Syndrome; Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, Md. MIM Number 275630. Available from: http://www.ncbi.nlm.nih.gov/omim/. [last accessed on 2009 Oct 24].
    • Chanarin-Dorfmann Syndrome
  • 2
    • 2342608019 scopus 로고    scopus 로고
    • Steatohepatitis and unsuspected micronodular cirrhosis in dorfman-chanarin syndrome with documented ABHD5 mutation
    • Srinivasan R, Hadzić N, Fischer J, Knisely AS. Steatohepatitis and unsuspected micronodular cirrhosis in dorfman-chanarin syndrome with documented ABHD5 mutation. J Pediatr 2004;144:662-5.
    • (2004) J Pediatr , vol.144 , pp. 662-665
    • Srinivasan, R.1    Hadzić, N.2    Fischer, J.3    Knisely, A.S.4
  • 6
    • 27444445278 scopus 로고    scopus 로고
    • Chanarin Dorfman syndrome neonatal diagnosis and 3-year follow-up
    • Gupta P, Kaur G. Chanarin Dorfman syndrome neonatal diagnosis and 3-year follow-up. Indian Pediatr 2005;42:1054-5.
    • (2005) Indian Pediatr , vol.42 , pp. 1054-1055
    • Gupta, P.1    Kaur, G.2
  • 8
    • 39149130249 scopus 로고    scopus 로고
    • Disorders of lipoprotein metabolism and transport
    • Kliegman RM, Jenson HB, Behrman RE, Stanton BF, editors, 18th ed, Part 1-16; 12. Philadelphia. Saunders
    • Neal WA. Disorders of Lipoprotein Metabolism and Transport. In: Kliegman RM, Jenson HB, Behrman RE, Stanton BF, editors. Nelson Textbook of Pediatrics, 18th ed, Vol 1, Part 1-16;12. Philadelphia. Saunders 2007. p. 589
    • (2007) Nelson Textbook of Pediatrics , vol.1 , pp. 589
    • Neal, W.A.1
  • 9
    • 67349265779 scopus 로고    scopus 로고
    • Chanarin-Dorfman syndrome: Deficiency in CGI-58, a lipid droplet-bound coactivator of lipase
    • Yamaguchi T, Osumi T. Chanarin-Dorfman syndrome: Deficiency in CGI-58, a lipid droplet-bound coactivator of lipase. Biochim Biophys Acta 2009;1791:519-23.
    • (2009) Biochim Biophys Acta , vol.1791 , pp. 519-523
    • Yamaguchi, T.1    Osumi, T.2
  • 10
    • 0242490136 scopus 로고    scopus 로고
    • Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome
    • 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;121:1029-34.
    • (2003) J Invest Dermatol , vol.121 , pp. 1029-1034
    • Akiyama, M.1    Sawamura, D.2    Nomura, Y.3    Sugawara, M.4    Shimizu, H.5
  • 11
    • 48449106052 scopus 로고    scopus 로고
    • Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation
    • Ronchetti A, Prati D, Pezzotta MG, Tavian D, Colombo R, Callea F, et al. Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation. J Hepatol 2008;49:474-7.
    • (2008) J Hepatol , vol.49 , pp. 474-477
    • Ronchetti, A.1    Prati, D.2    Pezzotta, M.G.3    Tavian, D.4    Colombo, R.5    Callea, F.6
  • 14
    • 44949200176 scopus 로고    scopus 로고
    • Renal involvement as a rare complication of Dorfman-Chanarin syndrome: A case report
    • Aksu G, Kalkan Ucar S, Bulut Y, Aydinok Y, Sen S, Anal O, et al. Renal involvement as a rare complication of Dorfman-Chanarin syndrome: A case report. Pediatr Dermatol 2008;25:326-31.
    • (2008) Pediatr Dermatol , vol.25 , pp. 326-331
    • Aksu, G.1    Kalkan Ucar, S.2    Bulut, Y.3    Aydinok, Y.4    Sen, S.5    Anal, O.6
  • 15
    • 57049092888 scopus 로고    scopus 로고
    • Chanarin-Dorfman syndrome with eccrine gland vacuolation: A case report
    • Pahwa M, Kar R, Singh A, Goel A, Ramesh V, Jain R. Chanarin-Dorfman syndrome with eccrine gland vacuolation: A case report. Int J Dermatol 2008;47:1257-9.
    • (2008) Int J Dermatol , vol.47 , pp. 1257-1259
    • Pahwa, M.1    Kar, R.2    Singh, A.3    Goel, A.4    Ramesh, V.5    Jain, R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.