Summary: We describe a case of the heterozygous antitrypsin phenotype IS. The 20 years old female employee had been recurrently suffering from cutaneous vasculitis over a period of three years. Serum trypsin Inhibitor was found to be high (1394 ImU) during the acute stage of the disease. No other serological or physical abnormalities were detected. A relationship between certain Pi (the term Pi indicating protease Inhibitor = OL \-antitrypsin) alleles and vasculitis is possible but not certain, äs three out of four other patients with this disease were MM phenotypes, the other one being MS type. Fall eines seltenen heterozygoten o ^-Antitrypsin-Phänotyps: I
oa-Antitrypsin can be shown to be polymorphic by starch gel electrophoresis. At present 19 different...
Alpha1-antitrypsin genetic polymorphism in ANCA-positive systemic vasculitis. Alpha1-antitrypsin (α1...
lpha1-antitrypsin (a1-AT) deficiency is a common genetic disorder, with homozygous genotype Z as the...
SUMMARY A patient with a low serum concentration of a1-antitrypsin (0-1 g/l) but with an M-like phen...
α1-Antitrypsin (α1-AT) deficiency is a common genetic disorder characterized by low serum α1-AT leve...
The deficiency of alpha-1 protease inhibitor, or alpha-1-antitrypsin (A1AT), predisposes to chronic ...
The Spanish registry of α1-antitrypsin deficiency (AATD) integrated in the European Alpha-1 Research...
We have previously demonstrated that a strong correlation exists between systemic vasculitis with pr...
Alpha-1-antitrypsin deficiency (A1ATD) is a genetic condition caused by SERPINA1 mutations, which re...
Objectives: To study the clinical characteristics and epidemiology of the combination of primary sys...
We report the genetic variants associated with alpha-1 antitrypsin deficiency (AATD) in 117 patients...
Genetic diagnosis a b s t r a c t By analysis of a case of discrepancy between serum alpha-1-antitry...
Many enzymes and several enzyme inhibitors are found in multiple molecular forms in different human ...
Abstractα1-Antitrypsin (AT) is the principal serum inhibitor of proteolytic enzymes such as neutroph...
Panniculitis is a recognized, but rare complication of α1-antitrypsin (A1AT) deficiency. Less than 6...
oa-Antitrypsin can be shown to be polymorphic by starch gel electrophoresis. At present 19 different...
Alpha1-antitrypsin genetic polymorphism in ANCA-positive systemic vasculitis. Alpha1-antitrypsin (α1...
lpha1-antitrypsin (a1-AT) deficiency is a common genetic disorder, with homozygous genotype Z as the...
SUMMARY A patient with a low serum concentration of a1-antitrypsin (0-1 g/l) but with an M-like phen...
α1-Antitrypsin (α1-AT) deficiency is a common genetic disorder characterized by low serum α1-AT leve...
The deficiency of alpha-1 protease inhibitor, or alpha-1-antitrypsin (A1AT), predisposes to chronic ...
The Spanish registry of α1-antitrypsin deficiency (AATD) integrated in the European Alpha-1 Research...
We have previously demonstrated that a strong correlation exists between systemic vasculitis with pr...
Alpha-1-antitrypsin deficiency (A1ATD) is a genetic condition caused by SERPINA1 mutations, which re...
Objectives: To study the clinical characteristics and epidemiology of the combination of primary sys...
We report the genetic variants associated with alpha-1 antitrypsin deficiency (AATD) in 117 patients...
Genetic diagnosis a b s t r a c t By analysis of a case of discrepancy between serum alpha-1-antitry...
Many enzymes and several enzyme inhibitors are found in multiple molecular forms in different human ...
Abstractα1-Antitrypsin (AT) is the principal serum inhibitor of proteolytic enzymes such as neutroph...
Panniculitis is a recognized, but rare complication of α1-antitrypsin (A1AT) deficiency. Less than 6...
oa-Antitrypsin can be shown to be polymorphic by starch gel electrophoresis. At present 19 different...
Alpha1-antitrypsin genetic polymorphism in ANCA-positive systemic vasculitis. Alpha1-antitrypsin (α1...
lpha1-antitrypsin (a1-AT) deficiency is a common genetic disorder, with homozygous genotype Z as the...