6 März 1898 Jahr - Fabry disease
Beschreibung:
Johanne Fabry, German dermatologist
Enzyme substitution (hydroxylase alpha-galactosidase) is efficacious in rectifying the metabolic deficit.
deficiency in hydrolase alpha-galactosidase activity with a resultant abnormal accumulation of globotriaosylceramide (Gb3) in various organ systems. In men, the condition is fatal within 50 years without treatment
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