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Volumn 144, Issue 5, 2004, Pages 662-665

Steatohepatitis and unsuspected micronodular cirrhosis in dorfman-chanarin syndrome with documented ABHD5 mutation

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; AMINOTRANSFERASE; URSODEOXYCHOLIC ACID;

EID: 2342608019     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2004.01.036     Document Type: Article
Times cited : (41)

References (12)
  • 1
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    • Johns Hopkins University, Baltimore, Md. MIM Number 275630, 25 August
    • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, Md. MIM Number 275630, 25 August 2003. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.
    • (2003) Online Mendelian Inheritance in Man, OMIM (TM)
  • 2
    • 0000798265 scopus 로고
    • The familial occurrence of fat-containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (Erb)
    • Jordans GHW. The familial occurrence of fat-containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (Erb). Acta Med Scand 1953;145:419-23.
    • (1953) Acta Med Scand , vol.145 , pp. 419-423
    • Jordans, G.H.W.1
  • 3
    • 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
    • Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig 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 2001;69:1002-12.
    • (2001) Am J Hum Genet , vol.69 , pp. 1002-1012
    • Lefèvre, C.1    Jobard, F.2    Caux, F.3    Bouadjar, B.4    Karaduman, A.5    Heilig, R.6
  • 4
    • 0031883290 scopus 로고    scopus 로고
    • Neutral lipid storage disease: A genetic disorder with abnormalities in the regulation of phospholipid metabolism
    • Igal RA, Coleman RA. Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. J Lipid Res 1998;39:31-43.
    • (1998) J Lipid Res , vol.39 , pp. 31-43
    • Igal, R.A.1    Coleman, R.A.2
  • 5
    • 0031952280 scopus 로고    scopus 로고
    • Dorfman-Chanarin syndrome: Morphologic studies and presentation of new cases
    • Srebrnik A, Brenner S, Ilie B, Messer G. Dorfman-Chanarin syndrome: Morphologic studies and presentation of new cases. Am J Dermatopathol 1998;20:79-85.
    • (1998) Am J Dermatopathol , vol.20 , pp. 79-85
    • Srebrnik, A.1    Brenner, S.2    Ilie, B.3    Messer, G.4
  • 7
    • 0014223067 scopus 로고
    • Method for electron microscopic studies of circulating human leukocytes and observations on their fine structure
    • Watanabe I, Donahue S, Hoggatt N. Method for electron microscopic studies of circulating human leukocytes and observations on their fine structure. J Ultrastruct Res 1967;20:366-82.
    • (1967) J Ultrastruct Res , vol.20 , pp. 366-382
    • Watanabe, I.1    Donahue, S.2    Hoggatt, N.3
  • 11
    • 0038644536 scopus 로고    scopus 로고
    • Nonalcoholic steatohepatitis: Summary of an AASLD single topic conference
    • Neuschwander-Tetri BA, Caldwell SH. Nonalcoholic steatohepatitis: summary of an AASLD single topic conference. Hepatology 2003;37:1202-19.
    • (2003) Hepatology , vol.37 , pp. 1202-1219
    • Neuschwander-Tetri, B.A.1    Caldwell, S.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.