نتایج جستجو برای: alpha 1 antitrypsin deficiency
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Background Alpha-1 antitrypsin deficiency (AATD) is a hereditary disorder defined by low plasma levels of alpha-1 antitrypsin (AAT). It is linked primarily with the development of lung, liver and skin disease. The most common abnormal variant of AAT is the ‘Z’ variant. It is the AATD type most associated with the development of liver disease. The aim of this project is to determine the prevalen...
Alpha-1-Antitrypsin (AAT) deficiency associated panniculitis is commonly included in the dermatologist's differential diagnosis but the disease is rarely ever diagnosed or discussed. The pathophysiology, clinical presentation, histopathology, diagnosis, and treatment of AAT deficiency panniculitis will be reviewed.
The S variant of the human alpha 1-antitrypsin with E-264----V, is responsible for a mild alpha 1-antitrypsin deficiency quite common in the European population. S protein specifically cleaved at the susceptible peptide bond was crystallized and its crystal structure determined and refined to 3.1 A resolution. The S variant crystallizes isomorphous to the normal M variant. The difference Fourie...
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