Results 191 to 200 of about 18,796 (222)

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.
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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
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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
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Alpha-1 antitrypsin deficiency

The Nurse Practitioner, 2014
Cathy R, Kessenich, Kathryn, Bacher
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Alpha-1-Antitrypsin Deficiency

Clinics in Chest Medicine, 1983
S, Idell, A B, Cohen
openaire   +4 more sources

Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency

Therapeutic Advances in Chronic Disease, 2021
Kimberly Foil
exaly  

Alpha-1-antitrypsin deficiency

2009
Alpha 1 antitrypsin deficiency is a rare hereditary disease with gene mutation located on 14q31-32 chromosome. Alpha 1 antitrypsin is a glycoprotein mainly produced by synthesize in the liver. It inhibits proteolytic activity in serum and thus prevents tissue damage.
Peroš-Golubičić, Tatjana, Smojver-Ježek, Silvana, Tekavec Trkanjec, Jasna, Mažuranić, Ivica   +3 more
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Galactosemia and Alpha-1- antitrypsin Deficiency

Clinical Pediatrics, 1985
F, Taylor, G, Rumsby, A, Whitfield, V, De Silva, M, Hjelm   +4 more
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Alpha 1-antitrypsin deficiency.

Gastroenterology nursing : the official journal of the Society of Gastroenterology Nurses and Associates, 1992
alpha 1-Antitrypsin (AAT) is a polymorphic protein with many variants collectively known as the Pi system. The most common alleles are the M, S and Z, which are co-dominantly inherited. Infants with PiZZ have approximately 16% of the normal AAT serum concentration.
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