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Volumn 49, Issue 3, 2008, Pages 474-477

Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABDH5 mutation

Author keywords

Chanarin Dorfman syndrome; Ichthyosis; Non alcoholic steatohepatitis

Indexed keywords

PROTEIN; PROTEIN ABDH 5; UNCLASSIFIED DRUG;

EID: 48449106052     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jhep.2008.05.027     Document Type: Article
Times cited : (24)

References (16)
  • 3
    • 0000798265 scopus 로고
    • The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia muscolorum progressiva
    • Jordan G.H. The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia muscolorum progressiva. Acta Med Scand 145 (1953) 419-423
    • (1953) Acta Med Scand , vol.145 , pp. 419-423
    • Jordan, G.H.1
  • 5
    • 0034764272 scopus 로고    scopus 로고
    • Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome
    • Lefevre C., Jobard F., Caux F., Bouadjar B., Karaduman A., Helig R., et al. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 69 (2001) 1002-1012
    • (2001) Am J Hum Genet , vol.69 , pp. 1002-1012
    • Lefevre, C.1    Jobard, F.2    Caux, F.3    Bouadjar, B.4    Karaduman, A.5    Helig, R.6
  • 7
    • 0344453816 scopus 로고    scopus 로고
    • Severe liver fibrosis or cirrhosis: accuracy of US for detection - analysis of 300 cases
    • Colli A., Fraquelli M., Andreoletti M., Marino B., Zuccoli E., and Conte D. Severe liver fibrosis or cirrhosis: accuracy of US for detection - analysis of 300 cases. Radiology 227 (2003) 89-94
    • (2003) Radiology , vol.227 , pp. 89-94
    • Colli, A.1    Fraquelli, M.2    Andreoletti, M.3    Marino, B.4    Zuccoli, E.5    Conte, D.6
  • 8
    • 34547738062 scopus 로고    scopus 로고
    • Improved cytochemical method for detecting Jordan's bodies in neutral lipid storage diseases
    • Tavian D., and Colombo R. Improved cytochemical method for detecting Jordan's bodies in neutral lipid storage diseases. J Clin Pathol 60 (2007) 956-958
    • (2007) J Clin Pathol , vol.60 , pp. 956-958
    • Tavian, D.1    Colombo, R.2
  • 10
    • 0030297526 scopus 로고    scopus 로고
    • Dorfman-Chanarin syndrome: a case with prevalent hepatic involvement
    • Mela D., Artom A., Goretti R., Paragona G., Riolfo M., Ardoino S., et al. Dorfman-Chanarin syndrome: a case with prevalent hepatic involvement. J Hepatol 25 (1996) 769-771
    • (1996) J Hepatol , vol.25 , pp. 769-771
    • Mela, D.1    Artom, A.2    Goretti, R.3    Paragona, G.4    Riolfo, M.5    Ardoino, S.6
  • 11
    • 2342608019 scopus 로고    scopus 로고
    • Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documentated ABHD5 mutation
    • Srinivasan R., Hadzic N., Fischer J., and Knisely A.S. Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documentated ABHD5 mutation. J Pediatr 144 (2004) 662-665
    • (2004) J Pediatr , vol.144 , pp. 662-665
    • Srinivasan, R.1    Hadzic, N.2    Fischer, J.3    Knisely, A.S.4
  • 12
    • 0031952280 scopus 로고    scopus 로고
    • Dorfman-Chanarin syndrome: morphologic studies and presentation of new cases
    • Srebrnik A., Brenner S., Ilie B., and Messer G. Dorfman-Chanarin syndrome: morphologic studies and presentation of new cases. Am J Dermatopathol 20 (1998) 79-85
    • (1998) Am J Dermatopathol , vol.20 , pp. 79-85
    • Srebrnik, A.1    Brenner, S.2    Ilie, B.3    Messer, G.4
  • 13
    • 33846687068 scopus 로고    scopus 로고
    • A case with full clinical manifestations of Dorfaman-Chanarin syndrome
    • Cuhaci F.N., Mutluay R., Aksakal B.A., Aksakal B.A., and Ertem Y. A case with full clinical manifestations of Dorfaman-Chanarin syndrome. CEJ Med 2 (2007) 116-121
    • (2007) CEJ Med , vol.2 , pp. 116-121
    • Cuhaci, F.N.1    Mutluay, R.2    Aksakal, B.A.3    Aksakal, B.A.4    Ertem, Y.5
  • 15
    • 21844475073 scopus 로고    scopus 로고
    • Two new mutations of ABHD5 gene in a new adult case of Chanarin-Dorfman syndrome: an uncommon lipid storage disease
    • Schleinitz N., Fisher J., Sanchez A., Veit V., Harle J.R., and Pelissier J.F. Two new mutations of ABHD5 gene in a new adult case of Chanarin-Dorfman syndrome: an uncommon lipid storage disease. Arch Dermatol 141 (2005) 798-800
    • (2005) Arch Dermatol , vol.141 , pp. 798-800
    • Schleinitz, N.1    Fisher, J.2    Sanchez, A.3    Veit, V.4    Harle, J.R.5    Pelissier, J.F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.