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Some people with A1AT deficiency can bring up a lot of sputum when they cough.
iPSCs that had undergone ZFN-mediated correction were differentiated in vitro into hepatocyte-like cells (the main cell type affected in the disease) that secreted active A1AT protein at levels comparable to normal adult hepatocytes.
Sequence analysis of the coding genome of a ZFN-corrected hiPSC line revealed that the sole change in the genome attributable to ZFN activity was the repair of the A1AT gene, demonstrating the precision of the modification.
Biopharmaceutical company Halozyme Therapeutics Inc (Nasdaq:HALO) and biology company Intrexon Corporation, jointly announced on Monday the execution of a worldwide exclusive licensing agreement for the subcutaneous injectable formulation of recombinant human alpha 1- antitrypsin for A1AT deficiency.
A new pure preparation of A1AT was made for value transfer to RPPHS; the preparation used for RPSP-4 was found to contain complexes that altered the value assignment.
Reference intervals were not available for AGP, A1AT, bilirubin (unconjugated), ceruloplasmin, CK, chloride, glucose, potassium, sodium, and STfR (7).
The apparent simplicity of diagnosing this disorder by a single measurement of the A1AT concentration is belied by the variety of A1AT tests offered by every reference laboratory.
A1AT is produced in the liver and transported to the lungs, where it functions to inhibit neutrophil elastase (1).
Because of this patient's remarkably low plasma A1AT concentration (Table 1), we also performed A1AT phenotyping, which indicated Z homozygosity (Pi*ZZ).
A1AT is produced in the liver, released into the circulation, and enters the lungs by diffusion, where it inhibits neutrophil elastase (3).
Testing for A1AT deficiency may be of benefit in patients with chronic hepatic injury and no other apparent cause, although the role of A1AT deficiency in liver disease in adults is not clearly defined (IIB).
Two allelic variants, PiZ and PiS, frequently lead to A1AT deficiency, which can manifest clinically as emphysema and, less frequently, as liver disease in neonates (2).
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