Isoelectrofocusing and PCR Amplification-Reverse Hybridization Assay in Evaluation of Alpha-1-Antitrypsin Deficiency
نویسندگان
چکیده
منابع مشابه
Alpha- 1 Antitrypsin Deficiency in Children: Pulmonary Involvement
Introduction: α1-antitrypsin deficiency (α1-ATD) is one of the most common genetic disorders in white race, a usual cause of liver disease in children, and hepatopulmonary involvement in children and adult. The aim of this case description is presenting a child with early lung disease without liver parenchymal disorder. Case presentation: We describe a 13 year old boy because of exertional dysp...
متن کاملAlpha 1 antitrypsin deficiency.
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
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Dawn L DeMeo, Robert A Sandhaus, Alan F Barker, Mark L Brantly, Edward Eden, N Gerard McElvaney, Stephen Rennard, Esteban Burchard, James M Stocks, James K Stoller, Charlie Strange, Gerard M Turino, Edward J Campbell, Edwin K Silverman . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....
متن کاملPrevalence of Alpha-1 Antitrypsin (A1AT) Deficiency among Patients with COPD in Kerman, Iran
Background: One of the genetic risk factors for chronic obstructive pulmonary disease (COPD) is deficiency of Alpha-1 Antitrypsin (A1AT). There is no exact statistics about the prevalence of this disease in different regions of Iran. The present study aimed to determine the prevalence of alpha-1 antitrypsin (A1AT) deficiency in COPD patients in Kerman, Iran. Metho...
متن کاملAlpha-1-antitrypsin deficiency and hepatocellular carcinoma.
Forty-two cases of hepatocellular carcinoma (HCC) were examined for the presence of the inclusions of alpha-1-antitrypsin (AAT), which indicate a carrier state for the Pi Z gene. These were found in the non-neoplastic liver tissue of two cases of HCC and in one of the 98 control livers, a difference that is not statistically significant. Typical globules of AAT deficiency were not found in HCC ...
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ژورنال
عنوان ژورنال: Journal of Medical Biochemistry
سال: 2009
ISSN: 1452-8266,1452-8258
DOI: 10.2478/v10011-009-0023-x