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portuguès
doença de fabry
espanyol
enfermedad de fabry
català
malaltia d'anderson-fabry
Rare human genetic lysosomal storage disorder.
fd
gla deficiency
fabry disease
anderson-fabry disease
angiokeratoma corporis diffusum
alpha-galactosidase a deficiency
alpha galactosidase deficiency
deficiency of melibiase
hereditary dystopic lipidosis
ceramide trihexosidase deficiency
developmental defect during embryogenesis
rare disease
català
malaltia d'anderson-fabry
1
Recent advances in enzyme replacement therapy can reverse the storage of glycosphingolipids in
Fabry
's
disease
.
2
The diagnosis of
Fabry
's
disease
was made by the absence of plasma alpha-galactosidase A activity.
3
Thus, in patients with cardiac hypertrophy, it is important to differentiate
Fabry
's
disease
from other causes of hypertrophy.
4
This was a very rare case of subclinical
Fabry
's
disease
coexistent with cholesterol crystal embolization, mimicking pulmonary-renal syndrome.
rus
болезнь фабри
portuguès
doença de fabry
espanyol
enfermedad de fabry
català
malaltia d'anderson-fabry
malaltia de fabry