Disorders of Protein Misfolding: Alpha-1-Antitrypsin Deficiency as Prototype
نویسندگان
چکیده
منابع مشابه
Alpha 1 antitrypsin deficiency.
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
متن کاملAlpha- 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 among Indian children with liver disorders.
AIMS To determine the frequency of alpha-1 antitrypsin (AAT) deficiency in children with chronic liver disease (CLD) and neonatal cholestasis syndrome (NCS). METHODS All children with NCS (n=23) or CLD (n=35) attending the Pediatric Gastroenterology Clinic between November 2003 and July 2005 were screened for AAT deficiency using phenotyping through isoelectric focusing of plasma. RESULTS O...
متن کاملALPHA-1-ANTITRYPSIN DEFICIENCY Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency
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 کاملHereditary of Alpha-1-Antitrypsin Deficiency
In this review article, in addition to the clinical manifestation of the alpha 1 antitrypsin deficiency, the genetics and molecular diagnosis of the disease and the effects of the causative mutations were reviewed.
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ژورنال
عنوان ژورنال: The Journal of Pediatrics
سال: 2013
ISSN: 0022-3476
DOI: 10.1016/j.jpeds.2013.03.077