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- W2815474690 abstract "Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved. In this review, we summarise and update current knowledge on alpha-1 antitrypsin deficiency in order to identify and discuss areas of controversy and formulate questions that need further research. 1) AATD is a highly underdiagnosed condition. Over 120,000 European individuals are estimated to have severe AATD and more than 90% of them are underdiagnosed. 2) Several clinical and etiological aspects of the disease are yet to be resolved. New strategies for early detection and biomarkers for patient outcome prediction are needed to reduce morbidity and mortality in these patients; 3) Augmentation therapy is the only specific approved therapy that has shown clinical efficacy in delaying the progression of emphysema. Regrettably, some countries reject registration and reimbursement for this treatment because of the lack of larger randomised, placebo-controlled trials. 4) Alternative strategies are currently being investigated, including the use of gene therapy or induced pluripotent stem cells, and non-augmentation strategies to prevent AAT polymerisation inside hepatocytes." @default.
- W2815474690 created "2018-07-19" @default.
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- W2815474690 date "2018-07-11" @default.
- W2815474690 modified "2023-10-18" @default.
- W2815474690 title "Alpha-1 antitrypsin deficiency: outstanding questions and future directions" @default.
- W2815474690 cites W1249821682 @default.
- W2815474690 cites W1539736798 @default.
- W2815474690 cites W1552633109 @default.
- W2815474690 cites W1829394506 @default.
- W2815474690 cites W1838370307 @default.
- W2815474690 cites W1921725433 @default.
- W2815474690 cites W1953559627 @default.
- W2815474690 cites W1966279359 @default.
- W2815474690 cites W1974935476 @default.
- W2815474690 cites W1975821728 @default.
- W2815474690 cites W1976151141 @default.
- W2815474690 cites W1976172319 @default.
- W2815474690 cites W1976731360 @default.
- W2815474690 cites W1977032724 @default.
- W2815474690 cites W1977335577 @default.
- W2815474690 cites W1980575540 @default.
- W2815474690 cites W1981906938 @default.
- W2815474690 cites W1982652782 @default.
- W2815474690 cites W1983344336 @default.
- W2815474690 cites W1983372385 @default.
- W2815474690 cites W1984582197 @default.
- W2815474690 cites W1984785598 @default.
- W2815474690 cites W1988627620 @default.
- W2815474690 cites W2001556815 @default.
- W2815474690 cites W2001625922 @default.
- W2815474690 cites W2003339322 @default.
- W2815474690 cites W2003400191 @default.
- W2815474690 cites W2011457714 @default.
- W2815474690 cites W2014264977 @default.
- W2815474690 cites W2015074868 @default.
- W2815474690 cites W2019173199 @default.
- W2815474690 cites W2020567605 @default.
- W2815474690 cites W2024387510 @default.
- W2815474690 cites W2028565527 @default.
- W2815474690 cites W2032475861 @default.
- W2815474690 cites W2032492315 @default.
- W2815474690 cites W2040892500 @default.
- W2815474690 cites W2046030479 @default.
- W2815474690 cites W2046488720 @default.
- W2815474690 cites W2047545735 @default.
- W2815474690 cites W2061311846 @default.
- W2815474690 cites W2068613710 @default.
- W2815474690 cites W2069008558 @default.
- W2815474690 cites W2073032979 @default.
- W2815474690 cites W2075565532 @default.
- W2815474690 cites W2081169091 @default.
- W2815474690 cites W2083725476 @default.
- W2815474690 cites W2083966880 @default.
- W2815474690 cites W2086189283 @default.
- W2815474690 cites W2088753168 @default.
- W2815474690 cites W2090595042 @default.
- W2815474690 cites W2094124997 @default.
- W2815474690 cites W2094898345 @default.
- W2815474690 cites W2096498520 @default.
- W2815474690 cites W2096915149 @default.
- W2815474690 cites W2097366111 @default.
- W2815474690 cites W2097395419 @default.
- W2815474690 cites W2098459793 @default.
- W2815474690 cites W2099801436 @default.
- W2815474690 cites W2100511558 @default.
- W2815474690 cites W2100985059 @default.
- W2815474690 cites W2101239102 @default.
- W2815474690 cites W2102294830 @default.
- W2815474690 cites W2104081530 @default.
- W2815474690 cites W2105464583 @default.
- W2815474690 cites W2106482095 @default.
- W2815474690 cites W2108071221 @default.
- W2815474690 cites W2110600773 @default.
- W2815474690 cites W2111066732 @default.
- W2815474690 cites W2112486153 @default.
- W2815474690 cites W2112665587 @default.
- W2815474690 cites W2113868571 @default.
- W2815474690 cites W2114163233 @default.
- W2815474690 cites W2115161783 @default.
- W2815474690 cites W2116716375 @default.
- W2815474690 cites W2117894506 @default.
- W2815474690 cites W2119134270 @default.
- W2815474690 cites W2121496322 @default.
- W2815474690 cites W2123284278 @default.
- W2815474690 cites W2127417742 @default.
- W2815474690 cites W2128806515 @default.