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Volumn 67, Issue 1, 2005, Pages 98-101

Congenital generalized lipodystrophy: Profile of the disease and gender differences in two siblings

Author keywords

Acanthosis nigricans; Acromegaloid features; Adiposity; Diabetes; Hepatomegaly; Insulin resistance

Indexed keywords

C PEPTIDE; CHOLESTEROL; GLUCOSE; GLYCEROL 3 PHOSPHATE ACYLTRANSFERASE; INSULIN; METFORMIN; SOMATOMEDIN C; TRIACYLGLYCEROL;

EID: 12744263238     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00372.x     Document Type: Article
Times cited : (7)

References (9)
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    • Garg A. Acquired and Inherited Lipodystrophies. N Engl J Med 2004: 350 (12): 1220-11234.
    • (2004) N. Engl. J. Med. , vol.350 , Issue.12 , pp. 1220-11234
    • Garg, A.1
  • 2
    • 0033305362 scopus 로고    scopus 로고
    • A gene for congenital generalized lipodystrophy maps to chromosome 9q34
    • Garg A, Ross W, Barnes R, Arioglu E et al. A gene for congenital generalized lipodystrophy maps to chromosome 9q34. J Clin Endocrinol Metab 1999: 84: 3390-3394.
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , pp. 3390-3394
    • Garg, A.1    Ross, W.2    Barnes, R.3    Arioglu, E.4
  • 3
    • 0034941121 scopus 로고    scopus 로고
    • Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
    • Magre J, Delepine M, Khallouf E, Geddhe-Dahl T et al. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet 2001: 28: 365-370.
    • (2001) Nat. Genet. , vol.28 , pp. 365-370
    • Magre, J.1    Delepine, M.2    Khallouf, E.3    Geddhe-Dahl, T.4
  • 4
    • 0001617185 scopus 로고
    • An undiagnosed endocrinometabolic syndrome. Report of 2 cases
    • Berardinelli W. An undiagnosed endocrinometabolic syndrome. report of 2 cases. J Clin Endocrinol Metab 1954: 14: 3390-3394.
    • (1954) J. Clin. Endocrinol. Metab. , vol.14 , pp. 3390-3394
    • Berardinelli, W.1
  • 5
    • 84925556001 scopus 로고
    • Lipodystrophy and gigantism with associated endocrine manifestations: A new diencephalic syndrome?
    • Seip M. Lipodystrophy and gigantism with associated endocrine manifestations: a new diencephalic syndrome? Acta Pediatr Scand 1959: 48: 555-574.
    • (1959) Acta Pediatr. Scand. , vol.48 , pp. 555-574
    • Seip, M.1
  • 6
    • 12744255939 scopus 로고    scopus 로고
    • Berardinelli-Seip congenital lipodystrophy
    • November (retrieved from)
    • Van-Maldergern L. Berardinelli-Seip congenital lipodystrophy. Orphanet encyclopedia, November 2001. (retrieved from http://orphaned.infobiogen.fr/data/patho/GB/uk-berard.html)
    • (2001) Orphanet Encyclopedia
    • Van-Maldergern, L.1
  • 7
    • 0842334498 scopus 로고    scopus 로고
    • Mutations in the Seipin gene and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil
    • Gomes KB, Fernandes AP, Ferreira ACS et al. Mutations in the Seipin gene and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. J Clin Endocrinol Metab 2004: 89 (1): 357-361.
    • (2004) J. Clin. Endocrinol. Metab. , vol.89 , Issue.1 , pp. 357-361
    • Gomes, K.B.1    Fernandes, A.P.2    Ferreira, A.C.S.3
  • 8
    • 18644371065 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in Berardinelli-Seip congenital lipodystrophy
    • Van Maldergem L, Magre J, Khallouf TE. Genotype-phenotype correlations in Berardinelli-Seip congenital lipodystrophy. J Med Gen 2002: 39: 722-733.
    • (2002) J. Med. Gen. , vol.39 , pp. 722-733
    • Van Maldergem, L.1    Magre, J.2    Khallouf, T.E.3
  • 9
    • 0029895842 scopus 로고    scopus 로고
    • Generalized lipodystrophy, congenital and acquired (lipoatrophy)
    • Seip M, Trygstad O. Generalized lipodystrophy, congenital and acquired (lipoatrophy). Acta Pediatr Suppl 1996: 413: 2-28.
    • (1996) Acta Pediatr. Suppl. , vol.413 , pp. 2-28
    • Seip, M.1    Trygstad, O.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.