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- W961854212 abstract "The authors report the pathological findings in a case of homocystinuria. Thrombosis of both carotids was the cause of death. The degenerative phenomenona involving the medium size arteries are described. Interstitial deposits of a fibrillar material similar to elastin were observed in the myocardium. The abnormalities in the elastic fibers of medium size arteries could explain the predisposition to thromboses, the risk of which would be increased by an abnormal activation of Hageman's factor. The possible relations between the disturbed synthesis of collagen and elastic fibers and the abnormal metabolism of sulfur containing amino acids are discussed. It is concluded that homocystinuria is a frequent enzymatic deficiency. Early diagnosis should permit effective tharapy from birth." @default.
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- W961854212 date "1973-01-01" @default.
- W961854212 modified "2023-09-27" @default.
- W961854212 title "[Anatomo-pathological study of a case of homocystinuria]." @default.
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