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Volumn 4, Issue , 2012, Pages 25-28

Gastrointestinal phenotype of fabry disease in a patient with pseudoobstruction syndrome

Author keywords

Collagenous colitis; Colonic pseudoobstruction; Cutaneous vascular lesion; Fabry disease; Sweat gland function

Indexed keywords


EID: 84884222125     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_63     Document Type: Chapter
Times cited : (15)

References (15)
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  • 4
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    • Small bowel perforation in Fabry’s disease
    • Bryan A, Knauft RF, Burns WA (1977) Small bowel perforation in Fabry’s disease. Ann Intern Med 86:315–316
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    • Bryan, A.1    Knauft, R.F.2    Burns, W.A.3
  • 5
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    • Alpha-galactosidase A deficiency: Fabry disease
    • Scriver CR, Beaudet AL, Sly WS, Valle D, McGraw-Hill, New York
    • Desnick R, Ioannou Y, Eng C (2001) Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3733–3774
    • (2001) The Metabolic and Molecular Bases of Inherited Disease, 8Th Edn , pp. 3733-3774
    • Desnick, R.1    Ioannou, Y.2    Eng, C.3
  • 6
    • 0036981032 scopus 로고    scopus 로고
    • Evaluation of peripheral and autonomic nerve function in Fabry disease
    • Hilz MJ (2002) Evaluation of peripheral and autonomic nerve function in Fabry disease. Acta Paediatr Suppl 91:38–42
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    • Hilz, M.J.1
  • 7
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    • Gastrointestinal symptoms in 342 patients with Fabry disease: Prevalence and response to enzyme replacement therapy
    • Hoffmann B, Schwarz M, Mehta A, Keshav S (2007) Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol 5:1447–1453
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    • Hoffmann, B.1    Schwarz, M.2    Mehta, A.3    Keshav, S.4
  • 14
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    • Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry
    • Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P (2009) Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med 11:790–796
    • (2009) Genet Med , vol.11 , pp. 790-796
    • Waldek, S.1    Patel, M.R.2    Banikazemi, M.3    Lemay, R.4    Lee, P.5
  • 15
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    • Fabry’s disease
    • Zarate YA, Hopkin RJ (2008) Fabry’s disease. Lancet 372:1427–1435
    • (2008) Lancet , vol.372 , pp. 1427-1435
    • Zarate, Y.A.1    Hopkin, R.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.