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alpha 1-Antitrypsin Deficiency
Known as:
A1ATD
, alpha 1-Antitrypsin Deficiencies
, Deficiency, alpha 1-Antitrypsin
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A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in…
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National Institutes of Health
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Related topics
Related topics
16 relations
Autosomal recessive inheritance
Chronic Obstructive Airway Disease
Hereditary Diseases
In Blood
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Broader (1)
Inborn Errors of Metabolism
Narrower (1)
alpha-1-Antitrypsin Deficiency, Autosomal Recessive
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
1994
1994
[Panniculitis associated with severe alpha 1-antitrypsin deficiency].
Traulsen Jb
1994
Corpus ID: 77373435
Genetically determined deficiency of alpha-1-antitrypsin, the primary serum protease inhibitor, can result in pulmonary emphysema…
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1991
1991
Alpha 1 antitrypsin phenotypes and alcoholic pancreatitis.
Paul S. Haber
,
Jeremy S. Wilson
,
B. Mcgarity
,
Wayne Hall
,
Merlin C. Thomas
,
R. Pirola
Gut
1991
Corpus ID: 39993871
Altered frequencies of alpha 1 antitrypsin phenotypes have been reported in patients with chronic pancreatitis, suggesting a…
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1987
1987
Filiform Large-Cell Lymphomas: An Ultrastructural and Immunohistochemical Study
V. Bernier
,
H. A. Azar
American Journal of Surgical Pathology
1987
Corpus ID: 25774180
Ten cases of “undifferentiated” large-cell tumors were ultrastructurally characterized by cells with abundant filiform…
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1985
1985
Effects of smoking and intermediate alpha 1-antitrypsin deficiency (PiMZ) on lung function.
S. Eriksson
,
S. Lindell
,
R. Wiberg
European journal of respiratory diseases
1985
Corpus ID: 31538327
To assess the role of smoking and heterozygous (PiMZ) alpha 1-antitrypsin deficiency as risk factors in the pathogenesis of…
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Highly Cited
1984
Highly Cited
1984
Monoclonal antibody specific for the mutant PiZ alpha 1-antitrypsin and its application in an ELISA procedure for identification of PiZ gene carriers.
A. Wallmark
,
R. Alm
,
S. Eriksson
Proceedings of the National Academy of Sciences…
1984
Corpus ID: 33001410
The PiZ genetic variant of alpha 1-antitrypsin in its homozygous form is associated with an increased risk for chronic lung and…
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1983
1983
Duplication of the distal segment of 14q.
J. Atkin
,
S. Patil
American journal of medical genetics
1983
Corpus ID: 11420109
We describe a child with duplication of the distal segment of 14q. Her father carries a balanced translocation between…
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1981
1981
Heterozygous alpha 1-antitrypsin deficiency: a longitudinal lung function study.
de Hamel Fa
,
Carrell Rw
The New Zealand medical journal
1981
Corpus ID: 68126041
alpha 1-antitrypsin phenotypes were determined in 906 adults from an entire community; 4.9 percent were heterozygotes (Pi MZ) for…
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Review
1976
Review
1976
Alpha-1-antitrypsin deficiency and liver in adults.
D. Triger
,
G. Millward-Sadler
,
A. A. Czaykowski
,
J. Trowell
,
R. Wright
The Quarterly journal of medicine
1976
Corpus ID: 39578165
Thirteen adult patients (aged 16 to 73 years) form 12 families are described with liver disease and alpha- 1- antitrypsin…
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1971
1971
Smoking and chronic obstructive lung disease in alpha-1-antitrypsin deficiency.
C. Mittman
,
J. Lieberman
,
F. Marasso
,
A. Miranda
Chest
1971
Corpus ID: 28289375
Similar spectra of chronic obstructive lung disease were observed in eight patients with severe and 21 with intermediate alpha1…
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1969
1969
Obstructive lung disease and alpha-1-antitrypsin deficiency gene heterozygosity.
F. Kueppers
,
R. Fallat
,
R. K. Larson
Science
1969
Corpus ID: 41173160
The phenotypes of serum alpha(1)-antitrypsin were determined by antigenantibody crossed electrophoresis. There were five…
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