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Improvement of cardiac hypertrophy and ventricular function in a man with Fabry disease by treatment with recombinant α-galactosidase A
  1. K Komamura,
  2. M Higashi,
  3. N Yamada
  1. kkoma@hsp.ncvc.go.jp

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A 35 year old man was diagnosed as having Fabry disease because of extremely low activity of α-galactosidase A and a point mutation of its gene. He had been suffering from acroparesthesias, angiokeratoma, corneal opacity, and hypohidrosis. Since his neuropathic pain was resistant to conventional treatment, he agreed with written informed …

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