From Birth to Midlife-Liver Function, Fibrosis and Mortality in Individuals with Severe Alpha-1-Antitrypsin Deficiency Identified by Neonatal Screening. [PDF]
J Clin MedSchramm GR +4 more
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Increased Risk of Cholesteatoma in Individuals With Alpha-1 Antitrypsin Deficiency: A Cohort Study. [PDF]
LaryngoscopeAli A, Ravn HA, Dahl M, Djurhuus BD.
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Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition caused by decreased plasma and tissue levels of alpha-1 antitrypsin (AAT) that can lead to serious lung and liver disease in children and adults. AATD patients face challenges such as under diagnosis, clinical variability, and limited treatment options for liver disease.
Meseeha M, Sankari A, Attia M.
europepmc +4 more sources
Advances in orphan drug development for alpha-1 antitrypsin deficiency: a 2025 update from the FDA and EMA. [PDF]
Ther Adv Respir DisHöger P +8 more
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Alpha-1 antitrypsin deficiency and granulomatosis with polyangiitis: a systematic review and meta-analysis. [PDF]
Eur Respir RevAlluhibi R +6 more
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Upadacitinib in a Refractory Case of Alpha-1 Antitrypsin Deficiency-Related Panniculitis. [PDF]
CureusChaoui M, De Greef A, Marot L, Baeck M.
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Alpha-1 antitrypsin deficiency in patients with chronic hepatitis
The Turkish Journal of Gastroenterology, 2012 Halis Şimşek +9 more
doaj +1 more source
Alpha-1 antitrypsin deficiency in bronchiectasis: Evidence for an overlooked entity beyond COPD: A retrospective observational study. [PDF]
Medicine (Baltimore)Özdemir L +6 more
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Prevalence of SERPINA1 mutations in a bronchiectasis cohort: implications of extended screening for alpha-1 antitrypsin deficiency. [PDF]
J Bras PneumolSokoloski CS +3 more
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