Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease

Journal of Inherited Metabolic Disease

Volumn 31, Issue , 2008, Pages 483-487

  Kobayashi, M ^a   Ohashi, T ^a   Sakuma, M ^a   Ida, H ^a   Eto, Y ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 85015409072     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0740-6     Document Type: Review

References (10)

1. Baehner F, Kampmann C, Whybra C, Miebach E, Wiethoff CM, Beck M (2003) Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study. J Inherit Metab Dis 26:617–627
2. Deegan PB, Baehner AF, Romero B, European FOS Investigators et al (2006) Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 43:347–352
3. Desnick RJ, Ioannou YA, Eng CM (2001) Alpha-Galactosidase a deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3733–3774.
4. Guffon N (2003) Clinical presentation in female patients with Fabry disease. J Med Genet 40, e38
5. Kampmann C, Baehner F, Whybra C et al (2002) Cardiac manifestations of Anderson–Fabry disease in heterozygous females. J Am Coll Cardiol 40:1668–1674
6. Linthorst GE, Hollak CE, Donker-Koopman WE, Strijland A, Aerts JM (2004) Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int 66:1589–1595
7. MacDermot KD, Holmes A, Miners AH (2001) Anderson–Fabry disease: clinicalmanifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38:769–775
8. Mehta A, Ricci R, Widmer U et al (2004) Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34:236–242
9. Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999) Prevalence of lysosomal storage disorders. JAMA 281:249–254
10. Whybra C, Kampmann C, Willers I, Davies J et al (2001) Anderson–Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 24:715–724