FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3183537350> ?p ?o ?g. }

• W3183537350 endingPage "116" @default.
• W3183537350 startingPage "96" @default.
• W3183537350 abstract "Gyrate atrophy of the choroid and retina (GACR) is a rare inborn error of amino acid metabolism caused by bi-allelic variations in OAT. GACR is characterised by vision decline in early life eventually leading to complete blindness, and high plasma ornithine levels. There is no curative treatment for GACR, although several therapeutic modalities aim to slow progression of the disease by targeting different steps within the ornithine pathway. No international treatment protocol is available. We systematically collected all international literature on therapeutic interventions in GACR to provide an overview of published treatment effects.Following the PRISMA guidelines, we conducted a systematic review of the English literature until December 22nd 2020. PubMed and Embase databases were searched for studies related to therapeutic interventions in patients with GACR.A total of 33 studies (n = 107 patients) met the inclusion criteria. Most studies were designed as case reports (n = 27) or case series (n = 4). No randomised controlled trials or large cohort studies were found. Treatments applied were protein-restricted diets, pyridoxine supplementation, creatine or creatine precursor supplementation, l-lysine supplementation, and proline supplementation. Protein-restricted diets lowered ornithine levels ranging from 16.0-91.2%. Pyridoxine responsiveness was reported in 30% of included mutations. Lysine supplementation decreased ornithine levels with 21-34%. Quality assessment showed low to moderate quality of the articles.Based primarily on case reports ornithine levels can be reduced by using a protein restricted diet, pyridoxine supplementation (variation-dependent) and/or lysine supplementation. The lack of pre-defined clinical outcome measures and structural follow-up in all included studies impeded conclusions on clinical effectiveness. Future research should be aimed at 1) Unravelling the OAT biochemical pathway to identify other possible pathologic metabolites besides ornithine, 2) Pre-defining GACR specific clinical outcome measures, and 3) Establishing an international historical cohort." @default.
• W3183537350 created "2021-08-02" @default.
• W3183537350 creator A5006134908 @default.
• W3183537350 creator A5015570238 @default.
• W3183537350 creator A5016480998 @default.
• W3183537350 creator A5020136146 @default.
• W3183537350 creator A5032671436 @default.
• W3183537350 creator A5040743356 @default.
• W3183537350 creator A5046701227 @default.
• W3183537350 creator A5057865344 @default.
• W3183537350 creator A5058967853 @default.
• W3183537350 creator A5062089580 @default.
• W3183537350 creator A5066789689 @default.
• W3183537350 creator A5068940726 @default.
• W3183537350 creator A5089412913 @default.
• W3183537350 date "2021-09-01" @default.
• W3183537350 modified "2023-09-30" @default.
• W3183537350 title "A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR)" @default.
• W3183537350 cites W1555118934 @default.
• W3183537350 cites W1973534597 @default.
• W3183537350 cites W1984566269 @default.
• W3183537350 cites W1987074486 @default.
• W3183537350 cites W1989343608 @default.
• W3183537350 cites W1994226447 @default.
• W3183537350 cites W2011408658 @default.
• W3183537350 cites W2019619170 @default.
• W3183537350 cites W2021235381 @default.
• W3183537350 cites W2025693625 @default.
• W3183537350 cites W2027428988 @default.
• W3183537350 cites W2028031254 @default.
• W3183537350 cites W2046673437 @default.
• W3183537350 cites W2049259593 @default.
• W3183537350 cites W2057462093 @default.
• W3183537350 cites W2061645417 @default.
• W3183537350 cites W2074914712 @default.
• W3183537350 cites W2076929216 @default.
• W3183537350 cites W2081456676 @default.
• W3183537350 cites W2081750835 @default.
• W3183537350 cites W2088350605 @default.
• W3183537350 cites W2088363181 @default.
• W3183537350 cites W2089176868 @default.
• W3183537350 cites W2090436419 @default.
• W3183537350 cites W2091995995 @default.
• W3183537350 cites W2096045469 @default.
• W3183537350 cites W2101024750 @default.
• W3183537350 cites W2122926634 @default.
• W3183537350 cites W2141597675 @default.
• W3183537350 cites W2150098487 @default.
• W3183537350 cites W2152980864 @default.
• W3183537350 cites W215452445 @default.
• W3183537350 cites W2157538766 @default.
• W3183537350 cites W2163883854 @default.
• W3183537350 cites W2168895564 @default.
• W3183537350 cites W2203189616 @default.
• W3183537350 cites W2331194792 @default.
• W3183537350 cites W2410564008 @default.
• W3183537350 cites W2604805588 @default.
• W3183537350 cites W2619712750 @default.
• W3183537350 cites W2626989184 @default.
• W3183537350 cites W2732325451 @default.
• W3183537350 cites W2732745994 @default.
• W3183537350 cites W2735396028 @default.
• W3183537350 cites W2762951373 @default.
• W3183537350 cites W2785755264 @default.
• W3183537350 cites W2807591008 @default.
• W3183537350 cites W2888013264 @default.
• W3183537350 cites W2896736705 @default.
• W3183537350 cites W2901846921 @default.
• W3183537350 cites W2942355434 @default.
• W3183537350 cites W3007387981 @default.
• W3183537350 cites W3007934773 @default.
• W3183537350 cites W3033244330 @default.
• W3183537350 cites W3033542474 @default.
• W3183537350 cites W3091422200 @default.
• W3183537350 cites W4234673789 @default.
• W3183537350 doi "https://doi.org/10.1016/j.ymgme.2021.07.010" @default.
• W3183537350 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34340878" @default.
• W3183537350 hasPublicationYear "2021" @default.
• W3183537350 type Work @default.
• W3183537350 sameAs 3183537350 @default.
• W3183537350 citedByCount "8" @default.
• W3183537350 countsByYear W31835373502022 @default.
• W3183537350 countsByYear W31835373502023 @default.
• W3183537350 crossrefType "journal-article" @default.
• W3183537350 hasAuthorship W3183537350A5006134908 @default.
• W3183537350 hasAuthorship W3183537350A5015570238 @default.
• W3183537350 hasAuthorship W3183537350A5016480998 @default.
• W3183537350 hasAuthorship W3183537350A5020136146 @default.
• W3183537350 hasAuthorship W3183537350A5032671436 @default.
• W3183537350 hasAuthorship W3183537350A5040743356 @default.
• W3183537350 hasAuthorship W3183537350A5046701227 @default.
• W3183537350 hasAuthorship W3183537350A5057865344 @default.
• W3183537350 hasAuthorship W3183537350A5058967853 @default.
• W3183537350 hasAuthorship W3183537350A5062089580 @default.
• W3183537350 hasAuthorship W3183537350A5066789689 @default.
• W3183537350 hasAuthorship W3183537350A5068940726 @default.
• W3183537350 hasAuthorship W3183537350A5089412913 @default.
• W3183537350 hasBestOaLocation W31835373501 @default.

• next