6 март 1898 г. - Fabry disease

Описание:

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

Добавлено на ленту времени:

Дата: