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1 disease, amyotrophic lateral sclerosis, and alpha-1 antitrypsin deficiency).
2 tment of a registry for subjects with severe alpha 1-antitrypsin deficiency.
3 ing neutrophil elastase for the treatment of alpha-1 antitrypsin deficiency.
4 tional diseases such as cystic fibrosis, and Alpha-1 antitrypsin deficiency.
5 type, causes a liver and lung disease called alpha-1 antitrypsin deficiency.
6 ung diseases such as bacterial infection and alpha-1 antitrypsin deficiency.
7 vel strategy for the perinatal management of alpha-1 antitrypsin deficiency.
8 ions in noncoding gene regions may result in alpha-1-antitrypsin deficiency.
9 ases of the lung, namely cystic fibrosis and alpha-1-antitrypsin deficiency.
10 re, early-onset COPD, who do not have severe alpha-1-antitrypsin deficiency.
11 r aggregation and lung-disease phenotypes of alpha-1-antitrypsin deficiency.
12 olymers at the site of synthesis, leading to alpha-1-antitrypsin deficiency.
13 n, and underlies misfolding diseases such as alpha(1)-antitrypsin deficiency.
14 wn as SERPINA1) gene that is responsible for alpha(1)-antitrypsin deficiency.
15 6 male and 4 female former smokers, two with alpha(1)-antitrypsin deficiency.
16 rs that can be used to treat patients with Z alpha(1)-antitrypsin deficiency.
17 opean descent and accounts for 95% of severe alpha(1)-antitrypsin deficiency.
18 liver failure included biliary atresia (11), alpha 1-antitrypsin deficiency (1), and liver failure se
19 ter before LTx could be analysed (COPD, 360; alpha-1-antitrypsin deficiency, 127; interstitial lung d
21 ed with bile acid synthetic disorder (BASD), alpha-1 antitrypsin deficiency (A1AT), chronic intrahepa
22 children with biliary atresia (BA; n = 187), alpha-1 antitrypsin deficiency (A1AT; n = 78), and Alagi
35 nts with PiZZ/PNPLA3 I148M from the European alpha-1-antitrypsin deficiency (AATD) liver consortium a
36 e impact of the local folding environment in alpha-1-antitrypsin deficiency (AATD), Niemann-Pick type
37 sthma is more common in subjects with severe alpha 1-antitrypsin deficiency (alpha 1-ATD) and airway
38 was limited to Mendelian syndromes, such as alpha-1 antitrypsin deficiency and cutis laxa, caused by
40 ith severe, early-onset COPD (without severe alpha(1)-antitrypsin deficiency) and 348 of their first-
41 as up-regulated in livers from patients with alpha(1)-antitrypsin deficiency, and the degree of up-re
42 n 3000 individuals in the United States have alpha-1 antitrypsin deficiency, and the most common caus
43 Wilson disease, genetic hemochromatosis and alpha-1 antitrypsin deficiency as we continue to elucida
46 amilial aggregation for COPD, independent of alpha-1-antitrypsin deficiency, could be demonstrated.
47 prevalence is comparable to the frequency of alpha-1 antitrypsin deficiency documented in this popula
50 monary disorders, including cystic fibrosis, alpha 1-antitrypsin deficiency, hereditary hemorrhagic t
51 afe genetic correction of a mutation causing alpha-1 antitrypsin deficiency in patient-derived hPSCs.
53 ene-by-smoking interactions, but only severe alpha 1-antitrypsin deficiency is a proven genetic risk
55 over 65 million individuals worldwide, where alpha-1-antitrypsin deficiency is a major genetic cause
57 result from mutations in the genes SERPINA1 (alpha(1)-antitrypsin deficiency), JAG1 (Alagille syndrom
59 ive effects of multiple SERPINA1 variants on alpha-1 antitrypsin deficiency, lung function, and emphy
60 In addition to Mendelian syndromes such as alpha-1 antitrypsin deficiency, many genomic regions tha
61 ticulum Hsp90 chaperone paralog, in managing alpha-1-antitrypsin deficiency on a residue-by-residue b
63 distinct form of "ER stress" that occurs in alpha(1)-antitrypsin deficiency, presumably determined b
66 iectasis may be more common in patients with alpha 1-antitrypsin deficiency than has been previously
69 , vascular (type IV) Ehlers-Danlos syndrome, alpha-1 antitrypsin deficiency, tuberous sclerosis compl
71 tor, low levels of which are associated with alpha-1 antitrypsin deficiency which leads to liver dise