Recurrent strokes in a young adult patient with Fabry's disease [1]

European Journal of Neurology

Volumn 12, Issue 6, 2005, Pages 486-487

  Tanaka, N ^a   Utsumi, Kouichi ^a   Seta, T ^a   Usuda, K ^a   Komaba, Y ^a   Katsumata, T ^a   Katsura, K I ^a   Sakamoto, S ^a   Katayama, Y ^a  

^a NIPPON MEDICAL SCHOOL   (Japan)

Author keywords

galactosidase A; Angiokeratoma; Fabry's disease; Globotriaosyl ceramide; Hemizygote; Heterozygote; Thrombosis

Indexed keywords

ALPHA GALACTOSIDASE; COMPLEMENTARY DNA;

ADULT; CASE REPORT; CONTROLLED STUDY; DYSARTHRIA; FABRY DISEASE; HEART LEFT VENTRICLE HYPERTROPHY; HOSPITAL ADMISSION; HUMAN; LETTER; MALE; MUSCLE WEAKNESS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; STROKE; X CHROMOSOME LINKED DISORDER;

ADULT; CEREBROVASCULAR ACCIDENT; FABRY DISEASE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; PONS; RECURRENCE;

EID: 20044373874     PISSN: 13515101     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2005.01016.x     Document Type: Letter

References (6)

1. Desnick RJ, Ioannou YA, Eng CM (2001). α-Galactosidase A deficiency: Fabry's disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. MaGraw-Hill, New York, pp. 3733-3774.
2. Eng CM, Guffon N, Wilcox WR et al. (2001). Safety and efficacy of recombinant human alpha-galactosidase replacement therapy in Fabry's disease. N Engl J Med 345:9-16.
3. Grewal RP (1994). Stroke in Fabry's disease. J Neurol 241:153-156.
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5. Schiffmann R, Kopp JB, Austin HA III et al. (2001). Enzyme replacement therapy in Fabry's disease: a randomized controlled trial. JAMA 285:2743-2749.
6. Utsumi K, Yamamoto N, Kase R et al. (1997). High incidence of thrombosis in Fabry's disease. Intern Med 36:327-329.