Results 221 to 230 of about 107,093 (255)

ALPHA‐1‐ANTITRYPSIN DEFICIENCY IN ADULTS

Acta Pathologica Japonica, 1986
A clinicopathological examination was carried out on eight adult patients with alpha‐1‐antitrypsin (ATT) deficiency. Phenotyping comfirmed five patients with PiMZ, two patients with PiZ‐, and one patient with PiZZ. Cirrhosis was found in six of the patients, four of whom had a history of excessive ethanol comsumption.
M, Kage, M, Kage, C T, Liew, Y, Xu, R L, Peters   +4 more
openaire   +2 more sources

Deficiency of Alpha-1 Antitrypsin

Annals of Internal Medicine, 1973
Excerpt It is almost a decade since genetic deficiency of alpha-1 antitrypsin was discovered in Malmo, Sweden, by Laurell and Eriksson (1) and shown to be associated with a tendency to early-onset ...
openaire   +2 more sources

Alpha-1 Antitrypsin Deficiency Associated COPD.

Clinics in Chest Medicine, 2020
Alpha-1 antitrypsin deficiency (AATD) was the first genetic risk factor for chronic obstructive pulmonary disease (COPD) described. In the more than 50 years since its description, the disease continues to provide insights into more common forms of COPD.
C. Strange
semanticscholar   +1 more source

Treatment of Alpha-1 Antitrypsin Deficiency

Seminars in Respiratory and Critical Care Medicine, 2015
Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disease that creates multiple unique phenotypes of chronic obstructive pulmonary disease. While bronchospasm, cough, dyspnea, and sputum production all occur with AATD, the phenotypic differences require a computed tomographic (CT) scan to decipher.
Charlie, Strange, Tatsiana, Beiko
openaire   +2 more sources

[Alpha 1-antitrypsin deficiency].

Revue des maladies respiratoires, 2016
Pulmonary emphysema and liver disease are the clinical expressions of alpha 1-antitrypsin deficiency, an autosomal recessive genetic disease.Alpha 1-antitrypsin deficiency is usually associated with the homozygous Z variant of the SERPINA1 gene.
openaire   +2 more sources

Alpha-1-Antitrypsin Deficiency Panniculitis

Dermatologic Clinics, 2008
Alpha-1-antitrypsin deficiency is a congenital error of metabolism linked to pulmonary (emphysema) and liver (cirrhosis) disease. Since 1972, panniculitis has been associated with this deficiency, initially related to Weber-Christian syndrome and finally as a differentiated entity.
Ricardo, Valverde, Belén, Rosales, Francisco Javier, Ortiz-de Frutos, José Luis, Rodríguez-Peralto, Pablo L, Ortiz-Romero   +4 more
openaire   +2 more sources

The Importance of Reference Centers and Registries for Rare Diseases: The Example of Alpha-1 Antitrypsin Deficiency

COPD, 2020
Alpha-1 antitrypsin deficiency (AATD) is a rare and underdiagnosed disease that is associated with the development of liver disease in adults and children and pulmonary emphysema in adults. Several studies have shown that there is limited knowledge about
M. Miravitlles, Alexa Núñez, M. Torres-Durán, F. Casas-Maldonado, J. Rodríguez-Hermosa, J. López-Campos, M. Calle, Esther Rodríguez, C. Esquinas, M. Barrecheguren   +9 more
semanticscholar   +1 more source

Emphysema: looking beyond alpha-1 antitrypsin deficiency

Expert Review of Respiratory Medicine, 2019
Introduction: Distinct pathologies can cause chronic obstructive pulmonary disease (COPD). Emphysema is a COPD-phenotype characterized by destruction of lung parenchyma.
R. Janssen, I. Piscaer, F. Franssen, E. Wouters   +3 more
semanticscholar   +1 more source

MZ Alpha-1 Antitrypsin Deficiency

American Journal of Respiratory and Critical Care Medicine, 2022
Oliver J, McElvaney, Gerald, Finnerty, Tomás P, Carroll, Mark L, Brantly, Noel G, McElvaney   +4 more
openaire   +2 more sources

Alpha-1 antitrypsin deficiency

The Nurse Practitioner, 2014
Cathy R, Kessenich, Kathryn, Bacher
openaire   +3 more sources