Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000254066> ?p ?o ?g. }
- W2000254066 endingPage "S95" @default.
- W2000254066 startingPage "S90" @default.
- W2000254066 abstract "Phenylketonuria (PKU) was the first inherited metabolic disease in which treatment was found to prevent clinical features of the disorder; dietary management was established almost 60 years ago. The institution of a low-phenylalanine (Phe) diet in the first few weeks of life was made possible by Guthrie neonatal screening, which further increased effectiveness of therapy. Indeed, neonatal diagnosis of PKU followed by institution of a low-Phe diet has been a remarkable success in preventing the devastating brain damage associated with untreated PKU. Nevertheless, significant difficulties exist in caring for PKU patients, including problems with adhering to the prescribed dietary regimen and the presence of neurocognitive deficits despite therapy. During the past few years, several ideas for new treatment strategies have emerged. This review aims to address these treatment strategies based on theoretical considerations of the biochemistry and pathogenesis of PKU. Recent times have seen the introduction of a wide array of novel treatments currently in clinical use, including more palatable medical foods, glycomacropeptide, large neutral amino acids, and tetrahydrobiopterin. Human trials are underway using an enzymatic therapeutic approach, while preclinical work continues in the fields of gene and cellular therapy. These therapeutic strategies propose to treat PKU at various levels, including nutritional intake, gut, liver, and blood–brain barrier, and have the potential to further improve outcome in PKU." @default.
- W2000254066 created "2016-06-24" @default.
- W2000254066 creator A5008356363 @default.
- W2000254066 creator A5016946363 @default.
- W2000254066 date "2010-01-01" @default.
- W2000254066 modified "2023-09-25" @default.
- W2000254066 title "Future treatment strategies in phenylketonuria☆" @default.
- W2000254066 cites W1514072575 @default.
- W2000254066 cites W1537784663 @default.
- W2000254066 cites W1700762969 @default.
- W2000254066 cites W1921128147 @default.
- W2000254066 cites W1965043146 @default.
- W2000254066 cites W1970797823 @default.
- W2000254066 cites W1971248353 @default.
- W2000254066 cites W1973603580 @default.
- W2000254066 cites W1977321354 @default.
- W2000254066 cites W1988691937 @default.
- W2000254066 cites W1989323794 @default.
- W2000254066 cites W1990289924 @default.
- W2000254066 cites W1997901745 @default.
- W2000254066 cites W1998831401 @default.
- W2000254066 cites W2000373820 @default.
- W2000254066 cites W2006724685 @default.
- W2000254066 cites W2008530076 @default.
- W2000254066 cites W2008580257 @default.
- W2000254066 cites W2009059536 @default.
- W2000254066 cites W2009509856 @default.
- W2000254066 cites W2013134165 @default.
- W2000254066 cites W2015131379 @default.
- W2000254066 cites W2019843119 @default.
- W2000254066 cites W2019954839 @default.
- W2000254066 cites W2021688647 @default.
- W2000254066 cites W2022963580 @default.
- W2000254066 cites W2025188436 @default.
- W2000254066 cites W2025540216 @default.
- W2000254066 cites W2026170993 @default.
- W2000254066 cites W2026175790 @default.
- W2000254066 cites W2031499048 @default.
- W2000254066 cites W2035677835 @default.
- W2000254066 cites W2038837313 @default.
- W2000254066 cites W2045823369 @default.
- W2000254066 cites W2051270913 @default.
- W2000254066 cites W2052094887 @default.
- W2000254066 cites W2052438797 @default.
- W2000254066 cites W2053871960 @default.
- W2000254066 cites W2054871304 @default.
- W2000254066 cites W2056651947 @default.
- W2000254066 cites W2058486420 @default.
- W2000254066 cites W2060418959 @default.
- W2000254066 cites W2061455216 @default.
- W2000254066 cites W2072418931 @default.
- W2000254066 cites W2073907027 @default.
- W2000254066 cites W2075692519 @default.
- W2000254066 cites W2077675998 @default.
- W2000254066 cites W2081486656 @default.
- W2000254066 cites W2085637806 @default.
- W2000254066 cites W2093424805 @default.
- W2000254066 cites W2094140621 @default.
- W2000254066 cites W2095483982 @default.
- W2000254066 cites W2098895071 @default.
- W2000254066 cites W2101639954 @default.
- W2000254066 cites W2102725599 @default.
- W2000254066 cites W2113539171 @default.
- W2000254066 cites W211409166 @default.
- W2000254066 cites W2114313193 @default.
- W2000254066 cites W2116350590 @default.
- W2000254066 cites W2116430436 @default.
- W2000254066 cites W2118783565 @default.
- W2000254066 cites W2122775923 @default.
- W2000254066 cites W2126537899 @default.
- W2000254066 cites W2127794825 @default.
- W2000254066 cites W2129099972 @default.
- W2000254066 cites W2131692954 @default.
- W2000254066 cites W2132423376 @default.
- W2000254066 cites W2134321589 @default.
- W2000254066 cites W2135187258 @default.
- W2000254066 cites W2135333889 @default.
- W2000254066 cites W2142010926 @default.
- W2000254066 cites W2142380955 @default.
- W2000254066 cites W2168125577 @default.
- W2000254066 cites W2168138547 @default.
- W2000254066 cites W2168267395 @default.
- W2000254066 cites W2172206537 @default.
- W2000254066 cites W2319807273 @default.
- W2000254066 cites W2337857510 @default.
- W2000254066 cites W2408017984 @default.
- W2000254066 cites W2437050669 @default.
- W2000254066 cites W2986354255 @default.
- W2000254066 cites W32260961 @default.
- W2000254066 cites W35194289 @default.
- W2000254066 cites W2067688405 @default.
- W2000254066 doi "https://doi.org/10.1016/j.ymgme.2009.10.008" @default.
- W2000254066 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20123478" @default.
- W2000254066 hasPublicationYear "2010" @default.
- W2000254066 type Work @default.
- W2000254066 sameAs 2000254066 @default.
- W2000254066 citedByCount "59" @default.
- W2000254066 countsByYear W20002540662012 @default.