Results 31 to 40 of about 24,735 (239)
Alpha 1 “Hereditary Emphysema” Experience: A Patient–Physician Perspective
Pulmonary Therapy, 2020 This article is co-authored by a patient living with alpha-1 antitrypsin deficiency, and her treating physician. The commentary article describes the patient’s experience of the diagnosis and treatment process.
Katie Moyer, Kamyar Afshar
doaj +1 more source
What Is Alpha-1 Antitrypsin (AAT) Deficiency? Fact Sheet [PDF]
, 2023 Basic facts about alpha-1 antitrypsin deficiency, managing your alpha-1 antitrypsin deficiency, how alpha-1 antitrypsin deficiency affects ...
core +1 more source
BMC Research Notes, 2019 Objective Alpha-1-antitrypsin deficiency is a relatively prevalent, but under-diagnosed, genetic disease. The objective of this study was to assess whether the systematic screening for alpha-1-antitrypsin deficiency in all patients with chronic ...
Cláudia Henrique da Costa +6 more
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Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes
PulmonologyAlpha-1 Antitrypsin Deficiency (AATD) is a co-dominant condition associated with an increased risk of lung and liver disease. Since it is commonly thought that 95% of severe cases of AATD have PI*ZZ genotype, most studies about AATD have been focused on ...
Ilaria Ferrarotti +18 more
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Diabetic retinopathy: could the alpha-1 antitrypsin be a therapeutic option? [PDF]
, 2014 Diabetic retinopathy is one of the most important causes of blindness. The underlying mechanisms of this disease include inflammatory changes and remodeling processes of the extracellular-matrix (ECM) leading to pericyte and vascular endothelial cell ...
Chuluyan, Hector Eduardo +3 more
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Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency
Orphanet Journal of Rare Diseases, 2018 Background Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver disease.
Francesco Callea +10 more
doaj +1 more source
Biomolecules, 2022 Alpha-1-Antitrypsin (AAT) is a protein of the SERPINA1 gene. A single amino acid mutation (Lys342Glu) results in an expression of misfolded Z-AAT protein, which has a high propensity to intra- and extra-cellular polymerization.
Annelot D. Sark +6 more
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Detection of alpha-1 antitrypsin deficiency: the past, present and future
Orphanet Journal of Rare Diseases, 2020 Background Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development.
Mark Brantly +12 more
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An analog of glibenclamide selectively enhances autophagic degradation of misfolded α1-antitrypsin Z [PDF]
, 2019 The classical form of α1-antitrypsin deficiency (ATD) is characterized by intracellular accumulation of the misfolded variant α1-antitrypsin Z (ATZ) and severe liver disease in some of the affected individuals.
Andrew S. Chu (6256490) +12 more
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Postponed diagnosis of alpha-1 antitrypsin deficiency [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2016 nema
Stojković-Lalošević Milica +5 more
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