6 mar 1898 ano - Fabry disease

Descrição:

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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