alpha 1-antitrypsin deficiency/bjúgur

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[Angioneurotic edema in hereditary alpha-1-antitrypsin deficiency].

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A young man with angioedema presented with normal concentration and function of C1-esterase inhibitor, but with a hereditary deficiency of alpha-1 antitrypsin (Pi-ZZ type). The pathogenetic relevance of this defect is discussed with respect to the partial deficiency of the complement component C4

Treatment of alpha-1-antitrypsin deficiency, massive edema, and panniculitis with alpha-1 protease inhibitor.

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[Pyroderma fistulans sinifica associated with congenital alpha-1-antitrypsin deficiency].

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A patient is reported who suffered from pyodermia fistulans sinifica (acne conglobata sinifica, acne tetrade) and who presented a severe congenital alpha-1-antitrypsin deficiency (phenotype ZZ). The possible significance of the protease inhibitor deficiency for the development of this disease is

Pathogenic alpha 1-antitrypsin polymers are formed by reactive loop-beta-sheet A linkage.

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alpha(1)-Antitrypsin is the most abundant circulating protease inhibitor and the archetype of the serine protease inhibitor or serpin superfamily. Members of this family may be inactivated by point mutations that favor transition to a polymeric conformation. This polymeric conformation underlies

Parker B. Francis lectureship. Antitrypsin deficiency, the serpinopathies, and chronic obstructive pulmonary disease.

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alpha(1)-Antitrypsin deficiency is the only genetic factor that is widely recognized to predispose smokers to chronic obstructive pulmonary disease. We have shown that the plasma deficiency results from point mutations perturbing the structure of the protein to favor sequential linkage between the

Virginal breast hypertrophy.

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Macromastia is the massive enlargement of the breast, unilateral or bilateral, disproportional to growth in the remainder of the body. Most patients seen with macromastia have breasts that develop normally at puberty but simply reach excessive size. Virginal breast hypertrophy is a rare and distinct

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Herbal & Natural Medicine

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