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Volumn 147, Issue 1, 2005, Pages 102-105

Radiological evidence of early cerebral microvascular disease in young children with Fabry disease

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA;

EID: 22144482394     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2005.03.004     Document Type: Article
Times cited : (40)

References (16)
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    • R.J. Desnick, Y.A. Ioannou, and C.M. Eng Alpha-galactosidase A deficiency: Fabry disease C. Scriver A. Beaudet W. Sly D. Valle B. Childs K. Kinzler Metabolic and Molecular Bases of Inherited Disease 2001 McGraw Hill New York 3733 3774
    • (2001) Metabolic and Molecular Bases of Inherited Disease , pp. 3733-3774
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  • 2
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    • M.H. Branton, R. Schiffmann, S.G. Sabnis, G.J. Murray, J.M. Quirk, and G. Altarescu Natural history of Fabry renal disease: influence of á-galactosidase A activity and genetic mutations on clinical course Medicine (Baltimore) 81 2002 122 138
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    • Branton, M.H.1    Schiffmann, R.2    Sabnis, S.G.3    Murray, G.J.4    Quirk, J.M.5    Altarescu, G.6
  • 3
    • 0034766525 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males
    • K.D. MacDermot, A. Holmes, and A.H. Miners Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males J Med Genet 38 2001 750 760
    • (2001) J Med Genet , vol.38 , pp. 750-760
    • MacDermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 4
    • 0034754467 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
    • K.D. MacDermot, A. Holmes, and A.H. Miners Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females J Med Genet 38 2001 769 775
    • (2001) J Med Genet , vol.38 , pp. 769-775
    • MacDermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 5
    • 9244220588 scopus 로고    scopus 로고
    • Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure
    • A. Van Loo, R. Vanholder, K. Madsen, M. Praet, J. Kint, and A. De Paepe Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure Am J Nephrol 16 1996 352 357
    • (1996) Am J Nephrol , vol.16 , pp. 352-357
    • Van Loo, A.1    Vanholder, R.2    Madsen, K.3    Praet, M.4    Kint, J.5    De Paepe, A.6
  • 6
    • 0037452544 scopus 로고    scopus 로고
    • Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
    • R.J. Desnick, R. Brady, J. Barranger, A.J. Collins, D.P. Germain, and M. Goldman Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy Ann Intern Med 138 2003 338 346
    • (2003) Ann Intern Med , vol.138 , pp. 338-346
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  • 7
    • 0029891216 scopus 로고    scopus 로고
    • Cerebrovascular complications of Fabry's disease
    • P. Mitsias, and S.R. Levine Cerebrovascular complications of Fabry's disease Ann Neurol 40 1996 8 17
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    • Mitsias, P.1    Levine, S.R.2
  • 8
    • 0028052980 scopus 로고
    • Stroke in Fabry's disease
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    • A. Mehta, R. Ricci, U. Widmer, F. Dehout, A. Garcia de Lorenzo, and C. Kampmann Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey Eur J Clin Invest 34 2004 236 242
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    • M. Ries, U. Ramaswami, R. Parini, B. Lindblad, C. Whybra, and I. Willers The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents Eur J Pediatr 162 2003 767 772
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.