α1 antitrypsin (AAT) deficiency is a significant factor in the pathogenesis of liver disease in children. A family is described in which two infant girls died of severe liver cirrhosis associated with AAT deficiency. This is the first report in Israel of hepatic disease in infancy associated with AAT deficiency. The family is of special interest because of the AAT phenotypes found: the father is PiMZ and the mother is PiFS. The infant whose phenotype was examined had PiSZ. It had been recently maintained that the phenotype SZ also constitutes a high risk situation for the development of liver disease, even though the serum levels of AAT may not be very low. In view of the relatively prominent part that AAT deficiency has been proved to play...
Alpha-I antitrypsin (AIAT) is an acute-phase protein that is produced in liver cells. AIAT deficienc...
ABSTRACT Background- Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a...
Alpha-1-antitrypsin (AAT) is a glycoprotein synthesised in the liver. Its main role is to protect lu...
textabstractAlpha-1-antitrypsin (AAT) deficiency is a rare genetic disorder characterized by hepatit...
Although a less well-known consequence of alpha-1 antitrypsin deficiency (AATD) liver disease is the...
peer reviewedAlpha-1-antitrypsin deficiency is the most common inborn error of metabolism leading to...
Abstract Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emp...
Alpha-1-antitrypsin deficiency is an autosomal recessive disease characterized by both liver damage ...
Aim: We conducted a prospective study to determine the role of alpha 1-antitrypsin (alpha 1AT) defic...
fantile liver disease with deficiency of serum a-1-antitrypsin is illustrated by a des-cription of t...
Alpha1-antitrypsin deficiency (A1ATD) is an inherited cause of chronic liver disease. It is inherite...
BACKGROUND & AIMS: To identify prognostic factors for liver disease in children with alpha-1 antitry...
Alpha-1-antitrypsin deficiency (AATD), which predisposes liver disease in children, is often undiagn...
Alpha-I antitrypsin (AIAT) is an acute-phase protein that is produced in liver cells. AIAT deficienc...
ABSTRACT Background- Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a...
Alpha-1-antitrypsin (AAT) is a glycoprotein synthesised in the liver. Its main role is to protect lu...
textabstractAlpha-1-antitrypsin (AAT) deficiency is a rare genetic disorder characterized by hepatit...
Although a less well-known consequence of alpha-1 antitrypsin deficiency (AATD) liver disease is the...
peer reviewedAlpha-1-antitrypsin deficiency is the most common inborn error of metabolism leading to...
Abstract Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emp...
Alpha-1-antitrypsin deficiency is an autosomal recessive disease characterized by both liver damage ...
Aim: We conducted a prospective study to determine the role of alpha 1-antitrypsin (alpha 1AT) defic...
fantile liver disease with deficiency of serum a-1-antitrypsin is illustrated by a des-cription of t...
Alpha1-antitrypsin deficiency (A1ATD) is an inherited cause of chronic liver disease. It is inherite...
BACKGROUND & AIMS: To identify prognostic factors for liver disease in children with alpha-1 antitry...
Alpha-1-antitrypsin deficiency (AATD), which predisposes liver disease in children, is often undiagn...
Alpha-I antitrypsin (AIAT) is an acute-phase protein that is produced in liver cells. AIAT deficienc...
ABSTRACT Background- Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a...
Alpha-1-antitrypsin (AAT) is a glycoprotein synthesised in the liver. Its main role is to protect lu...