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alpha 1-Antitrypsin Deficiency - Therapy
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Definition of 'alpha 1-Antitrypsin Deficiency'

Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN, leading primarily to degradation of elastin of the alveolar walls, as well as other structural proteins of a variety of tissues. (From Scriver, Beaudet, Sly, & Valle, The Metabolic and Molecular Bases of Inherited Disease, 7th ed, p4125)

Common names: alpha 1-Antitrypsin Deficiency; Deficiencies, alpha 1-Antitrypsin; Deficiency, alpha 1-Antitrypsin; alpha 1 Antitrypsin Deficiency; alpha 1-Antitrypsin Deficiencies

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Sunday, November 22, 2009

Sustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapy.

10 Aug 2009 Alpha-1 antitrypsin (AAT) deficiency is well-suited as a target for human gene transfer. We performed a phase 1, open-label, dose-escalation clinical trial of a recombinant adeno-associated virus (rAAV) vector expressing normal (M) AAT packaged into ... Read more...


alpha1-Antitrypsin deficiency, chronic obstructive pulmonary disease and the serpinopathies.

12 May 2009 alpha1-Antitrypsin is the prototypical member of the serine proteinase inhibitor or serpin superfamily of proteins. The family includes alpha1-antichymotrypsin, C1 inhibitor, antithrombin and neuroserpin, which are all linked by a common molecular ... Read more...


Lung volume reduction surgery for patients with alpha-1 antitrypsin deficiency emphysema.

29 Apr 2009 Currently, A1AD is recognized in approximately 2% of patients who have emphysema, although this may be an underestimation of the prevalence of this disease. Given the relatively young age at which patients who have A1AD present with emphysema, ... Read more...

 

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Technical information about 'alpha 1-Antitrypsin Deficiency'

Definition: Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN, leading primarily to degradation of elastin of the alveolar walls, as well as other structural proteins of a variety of tissues. (From Scriver, Beaudet, Sly, & Valle, The Metabolic and Molecular Bases of Inherited Disease, 7th ed, p4125)

Descriptor UI: D019896

Alternative terms: alpha 1-Antitrypsin Deficiency; Deficiencies, alpha 1-Antitrypsin; Deficiency, alpha 1-Antitrypsin; alpha 1 Antitrypsin Deficiency; alpha 1-Antitrypsin Deficiencies;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; congenital; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; urine; veterinary; ultrasonography; virology;

Tree Number: C17.300.050;

History Note: 98

Technical Notes: Pi or PiZZ goes here + PHENOTYPE; DF: ALPHA 1 ANTITRYPSIN DEFIC

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