ライフサイエンスコーパス: alpha 1-antitrypsin deficiency

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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 tional diseases such as cystic fibrosis, and Alpha-1 antitrypsin deficiency.

4 ions in noncoding gene regions may result in alpha-1-antitrypsin deficiency.

5 ases of the lung, namely cystic fibrosis and alpha-1-antitrypsin deficiency.

6 re, early-onset COPD, who do not have severe alpha-1-antitrypsin deficiency.

7 wn as SERPINA1) gene that is responsible for alpha(1)-antitrypsin deficiency.

8 6 male and 4 female former smokers, two with alpha(1)-antitrypsin deficiency.

9 rs that can be used to treat patients with Z alpha(1)-antitrypsin deficiency.

10 liver failure included biliary atresia (11), alpha 1-antitrypsin deficiency (1), and liver failure se

11 ter before LTx could be analysed (COPD, 360; alpha-1-antitrypsin deficiency, 127; interstitial lung d

12 In the classical form of alpha(1)-antitrypsin deficiency, a mutant protein accumu

13 Liver disease due to alpha-1-antitrypsin deficiency (A1ATD) is associated wit

14 Alpha-1 antitrypsin deficiency (AATD) is a rare genetic

15 e impact of the local folding environment in alpha-1-antitrypsin deficiency (AATD), Niemann-Pick type

16 sthma is more common in subjects with severe alpha 1-antitrypsin deficiency (alpha 1-ATD) and airway

17 The conference was titled "Alpha-1-Antitrypsin Deficiency and Other Liver Diseases

18 ith severe, early-onset COPD (without severe alpha(1)-antitrypsin deficiency) and 348 of their first-

19 as up-regulated in livers from patients with alpha(1)-antitrypsin deficiency, and the degree of up-re

20 n 3000 individuals in the United States have alpha-1 antitrypsin deficiency, and the most common caus

21 Wilson disease, genetic hemochromatosis and alpha-1 antitrypsin deficiency as we continue to elucida

22 amilial aggregation for COPD, independent of alpha-1-antitrypsin deficiency, could be demonstrated.

23 prevalence is comparable to the frequency of alpha-1 antitrypsin deficiency documented in this popula

24 The polymerization of AT, leading to alpha(1)-antitrypsin deficiency, has been studied extens

25 In alpha-1 antitrypsin deficiency, hepatocytes accumulate d

26 afe genetic correction of a mutation causing alpha-1 antitrypsin deficiency in patient-derived hPSCs.

27 We compared data of patients with COPD, alpha-1-antitrypsin deficiency, interstitial lung diseas

28 ene-by-smoking interactions, but only severe alpha 1-antitrypsin deficiency is a proven genetic risk

29 Alpha-1-antitrypsin deficiency is a genetic condition as

30 over 65 million individuals worldwide, where alpha-1-antitrypsin deficiency is a major genetic cause

31 Severe alpha-1-antitrypsin deficiency is the only proven geneti

32 result from mutations in the genes SERPINA1 (alpha(1)-antitrypsin deficiency), JAG1 (Alagille syndrom

33 In our study of 57 patients with alpha-1 antitrypsin deficiency (phenotype PiZ), progress

34 distinct form of "ER stress" that occurs in alpha(1)-antitrypsin deficiency, presumably determined b

35 The diagnosis of alpha 1-antitrypsin deficiency should be considered in p

36 Alpha-1 antitrypsin deficiency shows that rare coding va

37 iectasis may be more common in patients with alpha 1-antitrypsin deficiency than has been previously

38 Yet, aside from alpha-1 antitrypsin deficiency, the genetic determinants

39 CT scans in 14 patients with alpha 1-antitrypsin deficiency were evaluated by two tho

40 tor, low levels of which are associated with alpha-1 antitrypsin deficiency which leads to liver dise

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