{"id":"https://openalex.org/W3205679481","doi":null,"title":"Table 1. [Molecular Genetic Testing Used in GLB1-Related Disorders].","display_name":"Table 1. [Molecular Genetic Testing Used in GLB1-Related Disorders].","publication_year":2021,"publication_date":"2021-04-22","ids":{"openalex":"https://openalex.org/W3205679481","mag":"3205679481"},"language":"en","primary_location":{"id":"mag:3205679481","doi":null,"is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/books/NBK164500/table/gm1-ganglio.T.molecular_genetic_testing/","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/A5048575054","display_name":"Debra S. Regier","orcid":"https://orcid.org/0000-0001-7525-0088","observed_orcids":["https://orcid.org/0000-0001-7525-0088"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Debra S. Regier","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-7525-0088","affiliations":[]},{"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":[],"countries":[],"is_corresponding":false,"raw_author_name":"Cynthia J. Tifft","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-3931-1207","affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5083879452","display_name":"Caroline E Rothermel","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Caroline E Rothermel","raw_affiliation_strings":[],"raw_orcid":null,"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":0.18163988,"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":0.9926999807357788,"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":0.9926999807357788,"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":0.00559999980032444,"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":0.0007999999797903001,"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/glb1","display_name":"GLB1","score":0.9129999876022339},{"id":"https://openalex.org/keywords/galactosylceramide-synthase","display_name":"galactosylceramide synthase","score":0.6779999732971191},{"id":"https://openalex.org/keywords/gm2-gangliosidosis","display_name":"GM2 gangliosidosis","score":0.7540000081062317},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.7419999837875366},{"id":"https://openalex.org/keywords/molecular-genetic-testing","display_name":"molecular genetic testing","score":0.8669999837875366},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.6809999942779541}],"concepts":[{"id":"https://openalex.org/C45235069","wikidata":"https://www.wikidata.org/wiki/Q278425","display_name":"Table (database)","level":2,"score":0.666110634803772},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.315915048122406},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.1195313036441803}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:3205679481","doi":null,"is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/books/NBK164500/table/gm1-ganglio.T.molecular_genetic_testing/","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":[{"display_name":"Good health and well-being","score":0.8371999859809875,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2577752828","https://openalex.org/W2530855066","https://openalex.org/W3196660637","https://openalex.org/W2581760410","https://openalex.org/W2562132827","https://openalex.org/W3165280543","https://openalex.org/W3047141999","https://openalex.org/W2557358833","https://openalex.org/W2574658995","https://openalex.org/W2559203109"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2021-10-25T00:00:00"}
