{"doi":"10.5603/cn.98939","title":"Research on the treatment of Rett syndrome","abstract":null,"journal":"Child Neurology","year":2024,"id":626459,"datarank":0.10397207708399181,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"self_citation_contribution":0.10397207708399181,"citation_network_contribution":0.0,"self_endowment_contribution":0.10397207708399181,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1620501,"name":"Oliwia Gorgoń-Dezor","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Research on the treatment of Rett syndrome","abstract":"Rett syndrome (RS) is a genetically determined nerodevelopmental disorder that mainly affects females. The most common cause is a mutation in the MECP2 gene on the long arm of the X chromosome. In the phenotype of the syndrome, dominant symptoms from the nervous system are observed, such as speech and motor regression, stereotypical hand movements, intellectual disability, seizures and breathing disorders. Clinical manifestation also includes the skeletal system (short stature, scoliosis, osteoporosis) and the digestive system (gastroesophageal reflux). The syndrome was first described in 1965r. Research has been conducted for many years on various forms of therapy for patients with RS. Due to variety of symptoms, the impact of non-pharmacological actions and substances with very different mechanisms of action were assessed, using both previously known preparations, such as glatiramer acetate, cannabinoids, magnesium, L-carnitine, statins, as well as creating new molecules. Research led to FDA registration in march 2023 of the first drug for RS therapy, trofinetide.","is_dataset_classified":null,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"19767382","pmcid":null,"openalex_id":"https://openalex.org/W4392103432","authors":[],"funders":[],"total_grants":0,"fwci":0.4474,"citation_percentile":0.72536011,"influential_citations":0,"citation_trend":[{"year":2024,"count":1}],"oa_status":"gold","license":"cc-by-nc-nd","oa_locations":[{"url":"https://journals.viamedica.pl/child_neurology/article/download/98939/76566","host_type":"journal"},{"url":"https://journals.viamedica.pl/child_neurology/article/download/98939/76566","host_type":"publisher"},{"url":"https://journals.viamedica.pl/child_neurology/article/viewFile/98939/76566","host_type":"publisher"},{"url":"http://dx.doi.org/10.5603/cn.98939","host_type":"journal"}],"fields_of_study":["Botany and Plant Ecology Studies"],"mesh_terms":[],"keywords":["NAD+ kinase","Biology","Biochemistry"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-04T13:58:53.258849Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}