Matches in SemOpenAlex for { <https://semopenalex.org/work/W3158672277> ?p ?o ?g. }
- W3158672277 endingPage "200363" @default.
- W3158672277 startingPage "200363" @default.
- W3158672277 abstract "Lysosomes are intracellular organelles that are responsible for degrading and recycling macromolecules. Lysosomal storage diseases (LSDs) are a group of inherited diseases caused by mutations affecting genes that encode the function of the lysosomal enzymes. Three LSDs are associated with lung involvement and/or interstitial lung disease (ILD): Gaucher disease (GD); Niemann–Pick disease, also known as acid sphingomyelinase deficiency (ASMD); and Fabry disease (FD). In GD and in ASMD, analysis of bronchoalveolar lavage fluid and lung biopsy can be informative, showing foamy cells. In GD, ILD is rare. Enzyme replacement therapy (ERT) has been available since 1991 and has greatly changed the natural history of GD, with pulmonary failure and death reported before the ERT era. In ASMD, ILD is frequent and is usually associated with spleen enlargement, low platelet cell count and low level of high-density lipoprotein-cholesterol. Results of ERT are promising regarding preliminary results of olipudase alfa in paediatric and adult ASMD populations. The most frequent respiratory manifestation in FD is COPD-like symptoms regardless of smoking habit and dyspnoea due to congestive heart failure. Early diagnosis of these three LSDs is crucial to prevent irreversible organ damage. Early initiation of ERT can, at least in part, prevent organ failure." @default.
- W3158672277 created "2021-05-10" @default.
- W3158672277 creator A5049530249 @default.
- W3158672277 creator A5072515206 @default.
- W3158672277 creator A5075038951 @default.
- W3158672277 creator A5077011680 @default.
- W3158672277 date "2021-04-29" @default.
- W3158672277 modified "2023-10-16" @default.
- W3158672277 title "Interstitial lung disease in lysosomal storage disorders" @default.
- W3158672277 cites W1552747354 @default.
- W3158672277 cites W1554614785 @default.
- W3158672277 cites W1570247832 @default.
- W3158672277 cites W1605954517 @default.
- W3158672277 cites W1746905355 @default.
- W3158672277 cites W1964951337 @default.
- W3158672277 cites W1966318276 @default.
- W3158672277 cites W1987406270 @default.
- W3158672277 cites W1993455435 @default.
- W3158672277 cites W1993672365 @default.
- W3158672277 cites W1994435180 @default.
- W3158672277 cites W1996878434 @default.
- W3158672277 cites W1997973819 @default.
- W3158672277 cites W1998784444 @default.
- W3158672277 cites W2001951305 @default.
- W3158672277 cites W2002406895 @default.
- W3158672277 cites W2003054753 @default.
- W3158672277 cites W2007538035 @default.
- W3158672277 cites W2012978753 @default.
- W3158672277 cites W2013549544 @default.
- W3158672277 cites W2014430907 @default.
- W3158672277 cites W2016877780 @default.
- W3158672277 cites W2017680639 @default.
- W3158672277 cites W2023625342 @default.
- W3158672277 cites W2025782555 @default.
- W3158672277 cites W2026362320 @default.
- W3158672277 cites W2028216720 @default.
- W3158672277 cites W2029848612 @default.
- W3158672277 cites W2030191885 @default.
- W3158672277 cites W2034300416 @default.
- W3158672277 cites W2037462103 @default.
- W3158672277 cites W2038920726 @default.
- W3158672277 cites W2039778129 @default.
- W3158672277 cites W2042896903 @default.
- W3158672277 cites W2047648362 @default.
- W3158672277 cites W2050073345 @default.
- W3158672277 cites W2054159532 @default.
- W3158672277 cites W2058323497 @default.
- W3158672277 cites W2061620027 @default.
- W3158672277 cites W2064739502 @default.
- W3158672277 cites W2067584665 @default.
- W3158672277 cites W2067885092 @default.
- W3158672277 cites W2069784854 @default.
- W3158672277 cites W2072714809 @default.
- W3158672277 cites W2076355000 @default.
- W3158672277 cites W2078751996 @default.
- W3158672277 cites W2079222225 @default.
- W3158672277 cites W2080477448 @default.
- W3158672277 cites W2083139822 @default.
- W3158672277 cites W2086966586 @default.
- W3158672277 cites W2088813643 @default.
- W3158672277 cites W2092137717 @default.
- W3158672277 cites W2092592677 @default.
- W3158672277 cites W2093722439 @default.
- W3158672277 cites W2094914698 @default.
- W3158672277 cites W2094996563 @default.
- W3158672277 cites W2097080902 @default.
- W3158672277 cites W2098912123 @default.
- W3158672277 cites W2101510401 @default.
- W3158672277 cites W2109845932 @default.
- W3158672277 cites W2113487581 @default.
- W3158672277 cites W2114063752 @default.
- W3158672277 cites W2116036970 @default.
- W3158672277 cites W2120034344 @default.
- W3158672277 cites W2120097445 @default.
- W3158672277 cites W2120280549 @default.
- W3158672277 cites W2124185054 @default.
- W3158672277 cites W2127170653 @default.
- W3158672277 cites W2129236465 @default.
- W3158672277 cites W2143301220 @default.
- W3158672277 cites W2146877343 @default.
- W3158672277 cites W2150288618 @default.
- W3158672277 cites W2160121481 @default.
- W3158672277 cites W2160140241 @default.
- W3158672277 cites W2165008949 @default.
- W3158672277 cites W2168903900 @default.
- W3158672277 cites W2223628101 @default.
- W3158672277 cites W2321709204 @default.
- W3158672277 cites W2358339915 @default.
- W3158672277 cites W2381702116 @default.
- W3158672277 cites W2404836506 @default.
- W3158672277 cites W2412801487 @default.
- W3158672277 cites W2528387682 @default.
- W3158672277 cites W2538993809 @default.
- W3158672277 cites W2551002612 @default.
- W3158672277 cites W2551668015 @default.
- W3158672277 cites W2588291989 @default.
- W3158672277 cites W2591036609 @default.
- W3158672277 cites W2765300671 @default.