{"id":"https://openalex.org/W4387310728","doi":"https://doi.org/10.1016/j.nmd.2023.07.470","title":"P363 The AMETHIST phase 3 trial of venglustat in patients with GM2 gangliosidoses and related diseases: baseline characteristics","display_name":"P363 The AMETHIST phase 3 trial of venglustat in patients with GM2 gangliosidoses and related diseases: baseline characteristics","publication_year":2023,"publication_date":"2023-10-01","ids":{"openalex":"https://openalex.org/W4387310728","doi":"https://doi.org/10.1016/j.nmd.2023.07.470"},"language":"en","primary_location":{"id":"doi:10.1016/j.nmd.2023.07.470","doi":"https://doi.org/10.1016/j.nmd.2023.07.470","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.nmd.2023.07.470","pdf_url":null,"source":{"id":"https://openalex.org/S50004817","display_name":"Neuromuscular Disorders","issn_l":"0960-8966","issn":["0960-8966","1873-2364"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuromuscular Disorders","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"R. Zheng","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R. Zheng","raw_affiliation_strings":["Sanofi, Cambridge, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sanofi, Cambridge, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041456050","display_name":"Cynthia J. Tifft","orcid":"https://orcid.org/0000-0002-3931-1207","observed_orcids":["https://orcid.org/0000-0002-3931-1207"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"C. Tifft","raw_affiliation_strings":["National Institutes of Health, Bethesda, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institutes of Health, Bethesda, USA","institution_ids":["https://openalex.org/I1299303238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112206272","display_name":"Pascal Minini","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3018075036","display_name":"Sanofi (France)","ror":"https://ror.org/02n6c9837","country_code":"FR","type":"company","lineage":["https://openalex.org/I3018075036"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"P. Minini","raw_affiliation_strings":["Sanofi, Chilly-Mazarin, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sanofi, Chilly-Mazarin, France","institution_ids":["https://openalex.org/I3018075036"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5054818236","display_name":"Isabela Batsu","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"I. Batsu","raw_affiliation_strings":["Sanofi, Cambridge, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sanofi, Cambridge, USA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3620,"currency":"USD","value_usd":3620},"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"33","issue":null,"first_page":"S186","last_page":"S186"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/gm2-gangliosidoses","display_name":"GM2 gangliosidoses","score":0.968999981880188},{"id":"https://openalex.org/keywords/tay-sachs-disease","display_name":"Tay-Sachs disease","score":0.9950000047683716},{"id":"https://openalex.org/keywords/sandhoff-disease","display_name":"Sandhoff disease","score":1.0},{"id":"https://openalex.org/keywords/glucosylceramide-synthase-inhibitor","display_name":"glucosylceramide synthase inhibitor","score":0.8330000042915344},{"id":"https://openalex.org/keywords/hexa","display_name":"HEXA","score":0.6240000128746033},{"id":"https://openalex.org/keywords/hexb","display_name":"HEXB","score":0.9980000257492065},{"id":"https://openalex.org/keywords/nine-hole-peg-test","display_name":"Nine-Hole Peg Test","score":0.8550000190734863},{"id":"https://openalex.org/keywords/disease-modifying-therapy","display_name":"disease-modifying therapy","score":0.6880000233650208},{"id":"https://openalex.org/keywords/sphingolipid-pathway","display_name":"sphingolipid pathway","score":0.6629999876022339}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5456727743148804},{"id":"https://openalex.org/C12725497","wikidata":"https://www.wikidata.org/wiki/Q810247","display_name":"Baseline (sea)","level":2,"score":0.5320150852203369},{"id":"https://openalex.org/C17744445","wikidata":"https://www.wikidata.org/wiki/Q36442","display_name":"Political science","level":0,"score":0.09788468480110168},{"id":"https://openalex.org/C199539241","wikidata":"https://www.wikidata.org/wiki/Q7748","display_name":"Law","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.nmd.2023.07.470","doi":"https://doi.org/10.1016/j.nmd.2023.07.470","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.nmd.2023.07.470","pdf_url":null,"source":{"id":"https://openalex.org/S50004817","display_name":"Neuromuscular Disorders","issn_l":"0960-8966","issn":["0960-8966","1873-2364"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuromuscular Disorders","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4205358877","https://openalex.org/W4415227076","https://openalex.org/W4319456313","https://openalex.org/W2042357459","https://openalex.org/W7027327796","https://openalex.org/W2419441553","https://openalex.org/W2089676765","https://openalex.org/W2125080524","https://openalex.org/W4388066911","https://openalex.org/W2789798126"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2023-10-04T00:00:00"}
