Antitrypsin Deficiency

Common Name(s)

Antitrypsin Deficiency

Description for this condition is not yet available.
 

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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 328 free, full-text research articles on human participants. First 3 results:

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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Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency.
 

Author(s): Nerea Matamala, Maria Teresa Martínez, Beatriz Lara, Laura Pérez, Irene Vázquez, Azucena Jimenez, Miguel Barquín, Ilaria Ferrarotti, Ignacio Blanco, Sabina Janciauskiene, Beatriz Martinez-Delgado

Journal:

 

SERPINA1 is the gene for alpha-1 antitrypsin (AAT), an acute phase protein with anti-protease and immunoregulatory activities. Mutations in SERPINA1 gene cause AAT deficiency and predispose individuals to early-onset emphysema and liver diseases. Expression of the SERPINA1 gene is ...

Last Updated: 4 Jul 2015

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Low incidence of alpha-1-antitrypsin deficiency in Iranian patients with neonatal cholestasis.
 

Author(s): Farzaneh Motamed, Sanaz Mehrabani, Maryam Monajemzadeh, Mohammad Taghi Haghi Ashtiani, Sima Hosseinverdi, Masoud Houshmand, Omid Aryani, Mehri Najafi, Fatemeh Farahmand, Mohammad Ali Kiani, Ahmad Khodadad, Gholam Hossein Fallahi, Gholamreza Khatami, Nima Rezaei

Journal: Turk J Gastroenterol. 2015 May;26(3):251-3.

 

There is little data concerning the incidence of alpha-1-antitrypsin"(AAT) deficiency, the most common genetic cause of liver disease, among children with neonatal cholestasis in Iran. Thus, this study was performed to analyze AAT deficiency in this group of patients.

Last Updated: 26 May 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 59 free, full-text review articles on human participants. First 3 results:

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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Long-term experience in the treatment of α1-antitrypsin deficiency: 25 years of augmentation therapy.
 

Author(s): Helmut Teschler

Journal: Eur Respir Rev. 2015 Mar;24(135):46-51.

 

Although it is often under-recognised, α1-antitrypsin deficiency (AATD) represents one of the most common genetic respiratory disorders worldwide. Since the publication of studies in the late 1980s, which demonstrated that plasma-derived augmentation therapy with intravenous α1-antitrypsin ...

Last Updated: 2 Mar 2015

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Symptoms, Diagnosis, and Treatment

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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: 2 Feb 2016

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Last Updated: 18 Jul 2015

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