Diagnosing alpha-1 antitrypsin deficiency: the first step in precision medicine
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چکیده
منابع مشابه
Diagnosing alpha-1 antitrypsin deficiency: the first step in precision medicine
Severe alpha-1 antitrypsin (AAT) deficiency is one of the most common serious genetic diseases in adults of European descent. Individuals with AAT deficiency have a greatly increased risk for emphysema and liver disease. Other manifestations include bronchiectasis, necrotizing panniculitis and granulomatosis with polyangiitis. Despite the frequency and potential severity, AAT deficiency remains...
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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...
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ژورنال
عنوان ژورنال: F1000Research
سال: 2017
ISSN: 2046-1402
DOI: 10.12688/f1000research.12399.1