A Paschini de Capra

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Studies in three sibs from an Argentine family, aged 29, 18 and 9 years, suffering from a severe neurological disease, revealed in the two older brothers (the third died), ultrastructural changes in cellular vacuolization in diverse peripheral tissues (conjunctival, gum and skin biopsies) and in blood lymphocytes. These data were suggestive of(More)
In this paper we discuss the first five Argentinean patients presenting isovaleric acidemia (IVA), an alteration of leucine catabolism due to a genetic defect of isovaleryl-CoA dehydrogenase. Belonging to unrelated families, one from native (H. Fam.) and the other from Italian ancestry (M. Fam.); the patients presented the clinical pattern highly suggestive(More)
The striking and apparent specific elevation of the activity of chitotriosidase found in plasma from patients with Gaucher disease (GD) Type 1 (Mc Kusick 230800) is considered a new diagnostic hallmark of GD and should prove useful in assessing clinical manifestations and monitoring enzyme supplementation therapy. Further data have suggested that the(More)
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