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Volumn 28, Issue 1, 2008, Pages 17-20

Alström syndrome: First described case in Argentina;Sindrome de Alström Primer caso descripto en Argentina

Author keywords

Alstr m Syndrome; Children obesity; Dislipemia; Hyperinsulinemia; Renal failure; Retinal pigmentary degeneration

Indexed keywords

ADULT; ALSTROM SYNDROME; ARGENTINA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHRONIC OBSTRUCTIVE LUNG DISEASE; CLINICAL FEATURE; CONFERENCE PAPER; CONGESTIVE CARDIOMYOPATHY; DYSLIPIDEMIA; ECHOGRAPHY; FEMALE; GENE MUTATION; HEARING LOSS; HUMAN; HYPERINSULINEMIA; INSULIN RESISTANCE; KARYOTYPE 46,XX; KIDNEY CALCIFICATION; KIDNEY FAILURE; LIVER DYSFUNCTION; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; RETINA PIGMENT DEGENERATION; SYNDROME DELINEATION;

EID: 46049108004     PISSN: 03263428     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper
Times cited : (1)

References (9)
  • 1
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    • Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: A specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree
    • Alstrom CH, Hallgren B, Nilsson LB, Asander H: Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. Acta psychiatrica et neurologica Scandinavica 1959, 129:1-35
    • (1959) Acta psychiatrica et neurologica Scandinavica , vol.129 , pp. 1-35
    • Alstrom, C.H.1    Hallgren, B.2    Nilsson, L.B.3    Asander, H.4
  • 2
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    • Spectrum of ALMSI variants and evaluation of Genotype-Phenotype correlations in Alstrom Syndrome. Marshall J et al Hum Mutat 28(11),1114-1123,2007.
    • Spectrum of ALMSI variants and evaluation of Genotype-Phenotype correlations in Alstrom Syndrome. Marshall J et al Hum Mutat 28(11),1114-1123,2007.
  • 4
    • 20144362826 scopus 로고    scopus 로고
    • New Alström Syndrome phenotypes based on the evaluation of 182 cases
    • Marshall J, Bronson R, Collin C, Roderick T, Maffei P et al. New Alström Syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 2005; (165):675-683.
    • (2005) Arch Intern Med , vol.165 , pp. 675-683
    • Marshall, J.1    Bronson, R.2    Collin, C.3    Roderick, T.4    Maffei, P.5
  • 6
    • 2442689484 scopus 로고    scopus 로고
    • A mild form of Alström disease associated with metabolic syndrome and a very high fasting serum free fatty acids: Two cases diagnosed in adult age
    • Iannello S, Bosco P; Camuto M, Cavaleari A, Miazzo P, Belfine F. A mild form of Alström disease associated with metabolic syndrome and a very high fasting serum free fatty acids: two cases diagnosed in adult age. Am J Med Sci 2004; 327(5):284-288.
    • (2004) Am J Med Sci , vol.327 , Issue.5 , pp. 284-288
    • Iannello, S.1    Bosco, P.2    Camuto, M.3    Cavaleari, A.4    Miazzo, P.5    Belfine, F.6
  • 7
    • 0041833400 scopus 로고    scopus 로고
    • Alström syndrome: A missed diagnosis with consequences
    • Baumeister F, Sadowski B, Schmitz T, Grubi A. Alström syndrome: a missed diagnosis with consequences. Klin Paediatr 2003: 215(4): 226-227.
    • (2003) Klin Paediatr , vol.215 , Issue.4 , pp. 226-227
    • Baumeister, F.1    Sadowski, B.2    Schmitz, T.3    Grubi, A.4
  • 8
    • 33645892581 scopus 로고    scopus 로고
    • Rare case of Alström Syndrome without obesity and with short stature diagnosed in adulthood
    • Koc E, Bayrac G, Suher M, Ensari C, Aktas D, Ensari A. Rare case of Alström Syndrome without obesity and with short stature diagnosed in adulthood. Nephrology (Carlton) 2006, 11(2): 81-4.
    • (2006) Nephrology (Carlton) , vol.11 , Issue.2 , pp. 81-84
    • Koc, E.1    Bayrac, G.2    Suher, M.3    Ensari, C.4    Aktas, D.5    Ensari, A.6
  • 9
    • 18244407322 scopus 로고    scopus 로고
    • Hoffman J, Jacobson Z, Young T, Marshall J, Kaplan P. 9. Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs. Am J Med Genet A. 2005, 15 (135(1):96-8.
    • Hoffman J, Jacobson Z, Young T, Marshall J, Kaplan P. 9. Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs. Am J Med Genet A. 2005, 15 (135(1):96-8.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.