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- W2591766926 endingPage "342" @default.
- W2591766926 startingPage "325" @default.
- W2591766926 abstract "Abstract Classic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose‐1‐phosphate uridylyltransferase (GALT), the second enzyme of the Leloir pathway. It presents in the newborn period as a life‐threatening disease, whose clinical picture can be resolved by a galactose‐restricted diet. The dietary treatment proves, however, insufficient in preventing severe long‐term complications, such as cognitive, social and reproductive impairments. Classic galactosemia represents a heavy burden on patients’ and their families’ lives. After its first description in 1908 and despite intense research in the past century, the exact pathogenic mechanisms underlying galactosemia are still not fully understood. Recently, new important insights on molecular and cellular aspects of galactosemia have been gained, and should open new avenues for the development of novel therapeutic strategies. Moreover, an international galactosemia network has been established, which shall act as a platform for expertise and research in galactosemia. Herein are reviewed some of the latest developments in clinical practice and research findings on classic galactosemia, an enigmatic disorder with many unanswered questions warranting dedicated research." @default.
- W2591766926 created "2017-03-16" @default.
- W2591766926 creator A5002119981 @default.
- W2591766926 creator A5007057273 @default.
- W2591766926 creator A5065807435 @default.
- W2591766926 creator A5066734516 @default.
- W2591766926 date "2017-03-09" @default.
- W2591766926 modified "2023-10-10" @default.
- W2591766926 title "Sweet and sour: an update on classic galactosemia" @default.
- W2591766926 cites W106566486 @default.
- W2591766926 cites W13873163 @default.
- W2591766926 cites W1480298024 @default.
- W2591766926 cites W150095004 @default.
- W2591766926 cites W1511908432 @default.
- W2591766926 cites W1516675713 @default.
- W2591766926 cites W1528644508 @default.
- W2591766926 cites W1529736914 @default.
- W2591766926 cites W1547540808 @default.
- W2591766926 cites W1557573715 @default.
- W2591766926 cites W1557918165 @default.
- W2591766926 cites W1560514078 @default.
- W2591766926 cites W1584715394 @default.
- W2591766926 cites W1599056620 @default.
- W2591766926 cites W1611419455 @default.
- W2591766926 cites W1711466946 @default.
- W2591766926 cites W1807430561 @default.
- W2591766926 cites W1907130758 @default.
- W2591766926 cites W1926038202 @default.
- W2591766926 cites W195922492 @default.
- W2591766926 cites W1963514938 @default.
- W2591766926 cites W1964352879 @default.
- W2591766926 cites W1965819965 @default.
- W2591766926 cites W1967906449 @default.
- W2591766926 cites W1968118476 @default.
- W2591766926 cites W1968860102 @default.
- W2591766926 cites W1970545732 @default.
- W2591766926 cites W1972013252 @default.
- W2591766926 cites W1973467002 @default.
- W2591766926 cites W1976105897 @default.
- W2591766926 cites W1976637688 @default.
- W2591766926 cites W1976952114 @default.
- W2591766926 cites W1977033436 @default.
- W2591766926 cites W1977041874 @default.
- W2591766926 cites W1979209047 @default.
- W2591766926 cites W1979824026 @default.
- W2591766926 cites W1980159156 @default.
- W2591766926 cites W1981197913 @default.
- W2591766926 cites W1981397944 @default.
- W2591766926 cites W1981794596 @default.
- W2591766926 cites W1981875332 @default.
- W2591766926 cites W1982131709 @default.
- W2591766926 cites W1982259112 @default.
- W2591766926 cites W1982876935 @default.
- W2591766926 cites W1983537258 @default.
- W2591766926 cites W1987187865 @default.
- W2591766926 cites W1987229178 @default.
- W2591766926 cites W1987918200 @default.
- W2591766926 cites W1988623733 @default.
- W2591766926 cites W1988826473 @default.
- W2591766926 cites W1989456673 @default.
- W2591766926 cites W1989508751 @default.
- W2591766926 cites W1989649423 @default.
- W2591766926 cites W1989940862 @default.
- W2591766926 cites W1990209898 @default.
- W2591766926 cites W1993161813 @default.
- W2591766926 cites W1993575900 @default.
- W2591766926 cites W1994497616 @default.
- W2591766926 cites W1994505867 @default.
- W2591766926 cites W1995924496 @default.
- W2591766926 cites W1996234405 @default.
- W2591766926 cites W1996448811 @default.
- W2591766926 cites W1996972802 @default.
- W2591766926 cites W1999509668 @default.
- W2591766926 cites W2002189974 @default.
- W2591766926 cites W2002441483 @default.
- W2591766926 cites W2003116752 @default.
- W2591766926 cites W2007059739 @default.
- W2591766926 cites W2008770239 @default.
- W2591766926 cites W2009149240 @default.
- W2591766926 cites W2010991089 @default.
- W2591766926 cites W2013926634 @default.
- W2591766926 cites W2014747845 @default.
- W2591766926 cites W2015059769 @default.
- W2591766926 cites W2015068354 @default.
- W2591766926 cites W2015296829 @default.
- W2591766926 cites W2015603585 @default.
- W2591766926 cites W2016859309 @default.
- W2591766926 cites W2018136178 @default.
- W2591766926 cites W2018199568 @default.
- W2591766926 cites W2018510476 @default.
- W2591766926 cites W2018536419 @default.
- W2591766926 cites W2019374733 @default.
- W2591766926 cites W2021744794 @default.
- W2591766926 cites W2022740023 @default.
- W2591766926 cites W2023055832 @default.
- W2591766926 cites W2024637462 @default.
- W2591766926 cites W2025526865 @default.
- W2591766926 cites W2027419095 @default.