Antitrypsin Deficiency

Common Name(s)

Antitrypsin Deficiency

Description for this condition is not yet available.
 

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Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Antitrypsin Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Antitrypsin Deficiency" returned 337 free, full-text research articles on human participants. First 3 results:

How Can We Improve the Detection of Alpha1-Antitrypsin Deficiency?
 

Author(s): Ilaria Ferrarotti, Beata Poplawska-Wisniewska, Maria Teresa Trevisan, Janine Koepke, Marc Dresel, Rembert Koczulla, Stefania Ottaviani, Raffaele Baldo, Marina Gorrini, Giorgia Sala, Luana Cavallon, Tobias Welte, Joanna Chorostowska-Wynimko, Maurizio Luisetti, Sabina Janciauskiene

Journal:

 

The Z deficiency in α1-antitrypsin (A1ATD) is an under-recognized condition. Alpha1-antitrypsin (A1AT) is the main protein in the α1-globulin fraction of serum protein electrophoresis (SPE); however, evaluation of the α1-globulin protein fraction has received very little attention. ...

Last Updated: 14 Aug 2015

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Might your respiratory patient have alpha-1 antitrypsin deficiency?
 

Author(s): Robert A Sandhaus, Ann R Knebel

Journal: Heart Lung. ;44(6):463-4.

 

Last Updated: 17 Nov 2015

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Quantitation of circulating wild-type alpha-1-antitrypsin in heterozygous carriers of the S and Z deficiency alleles.
 

Author(s): L J Donato, R M Karras, J A Katzmann, D L Murray, M R Snyder

Journal:

 

Alpha-1-antitrypsin (A1AT) deficiency disease results from mutations in the A1AT gene. Controversy exists in regards to treatment of heterozygous carriers of the S and Z deficiency alleles. Quantitation of allelic expression has not been possible with standard laboratory methods. ...

Last Updated: 5 Aug 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Antitrypsin Deficiency" returned 60 free, full-text review articles on human participants. First 3 results:

Progress with Recombinant Adeno-Associated Virus Vectors for Gene Therapy of Alpha-1 Antitrypsin Deficiency.
 

Author(s): Alisha M Gruntman, Terence R Flotte

Journal: Hum Gene Ther Methods. 2015 Jun;26(3):77-81.

 

The pathway to a clinical gene therapy product often involves many changes of course and strategy before obtaining successful results. Here we outline the methodologies, both clinical and preclinical, that went into developing a gene therapy approach to the treatment of alpha-1 antitrypsin ...

Last Updated: 23 Jun 2015

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Suspecting and Testing for Alpha-1 Antitrypsin Deficiency-An Allergist's and/or Immunologist's Perspective.
 

Author(s): Timothy J Craig

Journal: J Allergy Clin Immunol Pract. ;3(4):506-11.

 

Alpha-1 antitrypsin deficiency (AATD) is a hereditary, monogenic disorder with no unique clinical features. AATD can be difficult to diagnose as patients commonly present with respiratory symptoms often mistaken for other respiratory syndromes such as asthma or smoking-related chronic ...

Last Updated: 13 Jul 2015

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Diagnosing α1-antitrypsin deficiency: how to improve the current algorithm.
 

Author(s): Noel G McElvaney

Journal: Eur Respir Rev. 2015 Mar;24(135):52-7.

 

Over the past 10-15 years, the diagnosis of α1-antitrypsin deficiency (AATD) has markedly improved as a result of increasing awareness and the publication of diagnostic recommendations by the American Thoracic Society (ATS)/European Respiratory Society (ERS). Nevertheless, the ...

Last Updated: 2 Mar 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Microbioma in Sputa From COPD With Alpha-1 Antitrypsin Deficiency
 

Status: Not yet recruiting

Condition Summary: Alpha-1 Antitrypsin Deficiency

 

Last Updated: 9 Sep 2015

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Carbamazepine in Severe Liver Disease Due to Alpha-1 Antitrypsin Deficiency
 

Status: Recruiting

Condition Summary: Alpha-1-antitrypsin Deficiency; Liver Cirrhosis

 

Last Updated: 9 Jun 2016

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Safety Study of Gene Transfer Vector to Treat alpha1-antitrypsin Deficiency
 

Status: Not yet recruiting

Condition Summary: alpha1-antitrypsin Deficiency

 

Last Updated: 16 Feb 2016

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