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Volumn 84, Issue 4, 2009, Pages 254-255

Jordans' anomaly in a new neutral lipid storage disease

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; AZO COMPOUND; COLORING AGENT; LIPID; PNPLA2 PROTEIN, HUMAN; SUDAN BLACK; TRIACYLGLYCEROL LIPASE;

EID: 64549083626     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.21186     Document Type: Article
Times cited : (10)

References (7)
  • 1
    • 0000798265 scopus 로고
    • The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva
    • Jordans GH. The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva. Acta Med Scand 1953;145:419-423.
    • (1953) Acta Med Scand , vol.145 , pp. 419-423
    • Jordans, G.H.1
  • 2
    • 0016612085 scopus 로고
    • Neutral-lipid storage disease: A new disorder of lipid metabolism
    • Chanarin I, Patel A, Slavin G, et al. Neutral-lipid storage disease: A new disorder of lipid metabolism. Br Med J 1975;1:553-555.
    • (1975) Br Med J , vol.1 , pp. 553-555
    • Chanarin, I.1    Patel, A.2    Slavin, G.3
  • 3
    • 0016096382 scopus 로고
    • Ichthyosiform dermatosis with systemic lipidosis
    • Dorfman ML, Hershko C, Eisenberg S, et al. Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol 1974;110:261-266.
    • (1974) Arch Dermatol , vol.110 , pp. 261-266
    • Dorfman, M.L.1    Hershko, C.2    Eisenberg, S.3
  • 4
    • 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, 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;69:1002-1012.
    • (2001) Am J Hum Genet , vol.69 , pp. 1002-1012
    • Lefèvre, C.1    Jobard, F.2    Caux, F.3
  • 5
    • 33845900676 scopus 로고    scopus 로고
    • The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy
    • Fischer J, Lefèvre C, Morava E, et al. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet 2007;39:28-30.
    • (2007) Nat Genet , vol.39 , pp. 28-30
    • Fischer, J.1    Lefère, C.2    Morava, E.3
  • 6
    • 0013942180 scopus 로고
    • Jordans' anomaly in white blood cells: Report of case
    • Rozenszajn L, Klajman A, Yaffe D, Efrati P. Jordans' anomaly in white blood cells: report of case. Blood 1966;28:258-265.
    • (1966) Blood , vol.28 , pp. 258-265
    • Rozenszajn, L.1    Klajman, A.2    Yaffe, D.3    Efrati, P.4
  • 7
    • 21844475073 scopus 로고    scopus 로고
    • Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: An uncommon lipid storage disease
    • Schleinitz N, Fischer J, Sanchez A, et al. Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: An uncommon lipid storage disease. Arch Dermatol 2005;141:798-800.
    • (2005) Arch Dermatol , vol.141 , pp. 798-800
    • Schleinitz, N.1    Fischer, J.2    Sanchez, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.