{"id":"https://openalex.org/W3173799348","doi":null,"title":"Table 3. [Genetic Disorders of Interest in the Differential Diagnosis of Subacute Juvenile Tay-Sachs disease].","display_name":"Table 3. [Genetic Disorders of Interest in the Differential Diagnosis of Subacute Juvenile Tay-Sachs disease].","publication_year":2020,"publication_date":"2020-10-01","ids":{"openalex":"https://openalex.org/W3173799348","mag":"3173799348"},"language":"en","primary_location":{"id":"mag:3173799348","doi":null,"is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/books/NBK1218/table/tay-sachs.T.genetic_disorders_of_interes/","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},"volume":null,"type":"article","indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5016992683","display_name":"Camilo Toro","orcid":"https://orcid.org/0000-0002-3917-9031","observed_orcids":["https://orcid.org/0000-0002-3917-9031","https://orcid.org/0000-0003-1242-9018"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Camilo Toro","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-3917-9031","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031102696","display_name":"Leila Shirvan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Leila Shirvan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","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":[],"countries":[],"is_corresponding":false,"raw_author_name":"Cynthia J. Tifft","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-3931-1207","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.28669771,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9945999979972839,"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":0.9945999979972839,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.00279999990016222,"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"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.000699999975040555,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/genetic-disorders","display_name":"genetic disorders","score":0.7649999856948853},{"id":"https://openalex.org/keywords/differential-diagnosis","display_name":"differential diagnosis","score":0.9860000014305115},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.6549999713897705},{"id":"https://openalex.org/keywords/gm2-gangliosidosis","display_name":"GM2 gangliosidosis","score":0.7960000038146973}],"concepts":[{"id":"https://openalex.org/C2778098279","wikidata":"https://www.wikidata.org/wiki/Q560337","display_name":"Tay-Sachs disease","level":3,"score":0.5530946850776672},{"id":"https://openalex.org/C45235069","wikidata":"https://www.wikidata.org/wiki/Q278425","display_name":"Table (database)","level":2,"score":0.45610836148262024},{"id":"https://openalex.org/C115961737","wikidata":"https://www.wikidata.org/wiki/Q1516282","display_name":"Juvenile","level":2,"score":0.43727195262908936},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4058334231376648},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4053342640399933},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.332824170589447},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.11758935451507568},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.11683061718940735},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.11155375838279724},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.09663039445877075},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:3173799348","doi":null,"is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/books/NBK1218/table/tay-sachs.T.genetic_disorders_of_interes/","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"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/W3199470033","https://openalex.org/W3179448204","https://openalex.org/W2467579237","https://openalex.org/W2955374063","https://openalex.org/W3204153139","https://openalex.org/W4406981972","https://openalex.org/W6885172976","https://openalex.org/W4206004430","https://openalex.org/W4283706900","https://openalex.org/W2181757614"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2021-07-05T00:00:00"}
