FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2912202854> ?p ?o ?g. }

• W2912202854 endingPage "333" @default.
• W2912202854 startingPage "322" @default.
• W2912202854 abstract "In patients with aromatic l-amino acid decarboxylase (AADC) deficiency, a decrease in catecholamines and serotonin levels in the brain leads to developmental delay and movement disorders. The beneficial effects of gene therapy in patients from 1 to 8 years of age with homogeneous severity of disease have been reported from Taiwan. We conducted an open-label phase 1/2 study of population including adolescent patients with different degrees of severity. Six patients were enrolled: four males (ages 4, 10, 15 and 19 years) and one female (age 12 years) with a severe phenotype who were not capable of voluntary movement or speech, and one female (age 5 years) with a moderate phenotype who could walk with support. The patients received a total of 2 × 1011 vector genomes of adeno-associated virus vector harbouring DDC via bilateral intraputaminal infusions. At up to 2 years after gene therapy, the motor function was remarkably improved in all patients. Three patients with the severe phenotype were able to stand with support, and one patient could walk with a walker, while the patient with the moderate phenotype could run and ride a bicycle. This moderate-phenotype patient also showed improvement in her mental function, being able to converse fluently and perform simple arithmetic. Dystonia disappeared and oculogyric crisis was markedly decreased in all patients. The patients exhibited transient choreic dyskinesia for a couple of months, but no adverse events caused by vector were observed. PET with 6-[18F]fluoro-l-m-tyrosine, a specific tracer for AADC, showed a persistently increased uptake in the broad areas of the putamen. In our study, older patients (>8 years of age) also showed improvement, although treatment was more effective in younger patients. The genetic background of our patients was heterogeneous, and some patients suspected of having remnant enzyme activity showed better improvement than the Taiwanese patients. In addition to the alleviation of motor symptoms, the cognitive and verbal functions were improved in a patient with the moderate phenotype. The restoration of dopamine synthesis in the putamen via gene transfer provides transformative medical benefit across all patient ages, genotypes, and disease severities included in this study, with the most pronounced improvements noted in moderate patients.10.1093/brain/awy331_video1awy331media15991361892001." @default.
• W2912202854 created "2019-02-21" @default.
• W2912202854 creator A5000876079 @default.
• W2912202854 creator A5001334483 @default.
• W2912202854 creator A5002367676 @default.
• W2912202854 creator A5006887924 @default.
• W2912202854 creator A5015262464 @default.
• W2912202854 creator A5017641271 @default.
• W2912202854 creator A5017834677 @default.
• W2912202854 creator A5026376830 @default.
• W2912202854 creator A5034163966 @default.
• W2912202854 creator A5034924872 @default.
• W2912202854 creator A5043634159 @default.
• W2912202854 creator A5045221906 @default.
• W2912202854 creator A5048764213 @default.
• W2912202854 creator A5048859419 @default.
• W2912202854 creator A5065211820 @default.
• W2912202854 creator A5078293163 @default.
• W2912202854 date "2019-01-23" @default.
• W2912202854 modified "2023-10-18" @default.
• W2912202854 title "Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency" @default.
• W2912202854 cites W1252660048 @default.
• W2912202854 cites W127596003 @default.
• W2912202854 cites W1483198065 @default.
• W2912202854 cites W1492446984 @default.
• W2912202854 cites W1966513242 @default.
• W2912202854 cites W1968107171 @default.
• W2912202854 cites W1971999279 @default.
• W2912202854 cites W1981845531 @default.
• W2912202854 cites W199097522 @default.
• W2912202854 cites W2003156967 @default.
• W2912202854 cites W2004851522 @default.
• W2912202854 cites W2013115524 @default.
• W2912202854 cites W2016922647 @default.
• W2912202854 cites W2018597846 @default.
• W2912202854 cites W2023057624 @default.
• W2912202854 cites W2026850284 @default.
• W2912202854 cites W2031170958 @default.
• W2912202854 cites W2037121812 @default.
• W2912202854 cites W2038776847 @default.
• W2912202854 cites W2039881052 @default.
• W2912202854 cites W2056445923 @default.
• W2912202854 cites W2058077554 @default.
• W2912202854 cites W2058470650 @default.
• W2912202854 cites W2059029780 @default.
• W2912202854 cites W2067448964 @default.
• W2912202854 cites W2074202394 @default.
• W2912202854 cites W2075622358 @default.
• W2912202854 cites W2084852718 @default.
• W2912202854 cites W2095401453 @default.
• W2912202854 cites W2098876610 @default.
• W2912202854 cites W2105294045 @default.
• W2912202854 cites W2105784332 @default.
• W2912202854 cites W2118830830 @default.
• W2912202854 cites W2119045428 @default.
• W2912202854 cites W2126397989 @default.
• W2912202854 cites W2128975075 @default.
• W2912202854 cites W2137939015 @default.
• W2912202854 cites W2141716990 @default.
• W2912202854 cites W2149322429 @default.
• W2912202854 cites W2155698899 @default.
• W2912202854 cites W2161197727 @default.
• W2912202854 cites W2162630772 @default.
• W2912202854 cites W2179249099 @default.
• W2912202854 cites W2303685484 @default.
• W2912202854 cites W2345818377 @default.
• W2912202854 cites W24003244 @default.
• W2912202854 cites W2467413617 @default.
• W2912202854 cites W2549136526 @default.
• W2912202854 cites W2577719614 @default.
• W2912202854 cites W2604272875 @default.
• W2912202854 cites W2750872433 @default.
• W2912202854 cites W2766287718 @default.
• W2912202854 doi "https://doi.org/10.1093/brain/awy331" @default.
• W2912202854 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6377184" @default.
• W2912202854 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30689738" @default.
• W2912202854 hasPublicationYear "2019" @default.
• W2912202854 type Work @default.
• W2912202854 sameAs 2912202854 @default.
• W2912202854 citedByCount "95" @default.
• W2912202854 countsByYear W29122028542019 @default.
• W2912202854 countsByYear W29122028542020 @default.
• W2912202854 countsByYear W29122028542021 @default.
• W2912202854 countsByYear W29122028542022 @default.
• W2912202854 countsByYear W29122028542023 @default.
• W2912202854 crossrefType "journal-article" @default.
• W2912202854 hasAuthorship W2912202854A5000876079 @default.
• W2912202854 hasAuthorship W2912202854A5001334483 @default.
• W2912202854 hasAuthorship W2912202854A5002367676 @default.
• W2912202854 hasAuthorship W2912202854A5006887924 @default.
• W2912202854 hasAuthorship W2912202854A5015262464 @default.
• W2912202854 hasAuthorship W2912202854A5017641271 @default.
• W2912202854 hasAuthorship W2912202854A5017834677 @default.
• W2912202854 hasAuthorship W2912202854A5026376830 @default.
• W2912202854 hasAuthorship W2912202854A5034163966 @default.
• W2912202854 hasAuthorship W2912202854A5034924872 @default.
• W2912202854 hasAuthorship W2912202854A5043634159 @default.
• W2912202854 hasAuthorship W2912202854A5045221906 @default.

• next