{"id":"https://openalex.org/W2058905986","doi":"https://doi.org/10.1016/s0168-9525(97)01379-6","title":"The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry","display_name":"The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry","publication_year":1998,"publication_date":"1998-03-01","ids":{"openalex":"https://openalex.org/W2058905986","doi":"https://doi.org/10.1016/s0168-9525(97)01379-6","mag":"2058905986","pmid":"https://pubmed.ncbi.nlm.nih.gov/9540406"},"language":"en","primary_location":{"id":"doi:10.1016/s0168-9525(97)01379-6","doi":"https://doi.org/10.1016/s0168-9525(97)01379-6","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0168-9525(97)01379-6","pdf_url":null,"source":{"id":"https://openalex.org/S139283865","display_name":"Trends in Genetics","issn_l":"0168-9525","issn":["0168-9525","1362-4555"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-200","russia-white-list-1","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":"Trends in Genetics","raw_type":"journal-article"},"volume":null,"type":"review","indexed_in":["crossref","pubmed"],"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/A5017872325","display_name":"Klaus G. Petry","orcid":"https://orcid.org/0000-0002-9527-6098","observed_orcids":["https://orcid.org/0000-0002-9527-6098"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405256745","display_name":"Universit\u00e9 Bordeaux Segalen","ror":"https://ror.org/04gbzm373","country_code":"FR","type":"education","lineage":["https://openalex.org/I15057530","https://openalex.org/I4405256745"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Klaus G Petry","raw_affiliation_strings":["Institut Fran\u00e7ois Magendie, INSERM U.394 Neurobiologie int\u00e9grative, Universit\u00e9 Victor Segalen/Bordeaux 2, France. klaus.petry@bordeaux.inserm.fr","Institut Fran\u00e7ois Magendie, INSERM U.394 Neurobiologie int\u00e9grative, Universit\u00e9 Victor Segalen/Bordeaux 2, Bordeaux, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut Fran\u00e7ois Magendie, INSERM U.394 Neurobiologie int\u00e9grative, Universit\u00e9 Victor Segalen/Bordeaux 2, France. klaus.petry@bordeaux.inserm.fr","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405256745"]},{"raw_affiliation_string":"Institut Fran\u00e7ois Magendie, INSERM U.394 Neurobiologie int\u00e9grative, Universit\u00e9 Victor Segalen/Bordeaux 2, Bordeaux, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405256745"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5048990711","display_name":"Juergen K. V. Reichardt","orcid":"https://orcid.org/0000-0001-6458-2773","observed_orcids":["https://orcid.org/0000-0001-6458-2773"]},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Juergen K.V Reichardt","raw_affiliation_strings":["Department of Biochemistry and Molecular Biology and Institute for Genetic Medicine, USC School of Medicine, Los Angeles, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry and Molecular Biology and Institute for Genetic Medicine, USC School of Medicine, Los Angeles, CA, USA","institution_ids":["https://openalex.org/I1174212"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":7030,"currency":"USD","value_usd":7030},"apc_paid":null,"fwci":0.5084,"has_fulltext":false,"cited_by_count":85,"citation_normalized_percentile":{"value":0.45454545,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"14","issue":"3","first_page":"98","last_page":"102"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9984999895095825,"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"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9984999895095825,"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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":0.00039999998989515007,"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/galactose-metabolism","display_name":"galactose metabolism","score":0.9710000157356262},{"id":"https://openalex.org/keywords/galactosemia","display_name":"galactosemia","score":0.9869999885559082},{"id":"https://openalex.org/keywords/galk","display_name":"galK","score":0.7059999704360962},{"id":"https://openalex.org/keywords/gut-associated-lymphoid-tissue","display_name":"gut-associated lymphoid tissue","score":0.9990000128746033},{"id":"https://openalex.org/keywords/gale","display_name":"gales","score":0.996999979019165},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9559999704360962},{"id":"https://openalex.org/keywords/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.9160000085830688},{"id":"https://openalex.org/keywords/glycoprotein-modification","display_name":"glycoprotein modification","score":0.878000020980835},{"id":"https://openalex.org/keywords/cellular-energy-production","display_name":"cellular energy production","score":0.9120000004768372},{"id":"https://openalex.org/keywords/gene-cloning","display_name":"gene cloning","score":0.3970000147819519}],"concepts":[{"id":"https://openalex.org/C2779274956","wikidata":"https://www.wikidata.org/wiki/Q774483","display_name":"Galactosemia","level":3,"score":0.98029625415802},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.768653154373169},{"id":"https://openalex.org/C2778173381","wikidata":"https://www.wikidata.org/wiki/Q66589593","display_name":"Galactose","level":2,"score":0.6892931461334229},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6350931525230408},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.5322917103767395},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.52092045545578},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.5165407061576843},{"id":"https://openalex.org/C2779646400","wikidata":"https://www.wikidata.org/wiki/Q1758393","display_name":"Inborn error of metabolism","level":2,"score":0.5150346755981445},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4690442681312561},{"id":"https://openalex.org/C62231903","wikidata":"https://www.wikidata.org/wiki/Q1057","display_name":"Metabolism","level":2,"score":0.45247402787208557},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3896653652191162}],"mesh":[{"descriptor_ui":"D002240","descriptor_name":"Carbohydrate Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002240","descriptor_name":"Carbohydrate Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002240","descriptor_name":"Carbohydrate Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005640","descriptor_name":"Follicle Stimulating Hormone","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005640","descriptor_name":"Follicle Stimulating Hormone","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005640","descriptor_name":"Follicle Stimulating Hormone","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005640","descriptor_name":"Follicle Stimulating Hormone","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D005640","descriptor_name":"Follicle Stimulating Hormone","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D005640","descriptor_name":"Follicle Stimulating Hormone","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D005690","descriptor_name":"Galactose","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005690","descriptor_name":"Galactose","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005690","descriptor_name":"Galactose","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005693","descriptor_name":"Galactosemias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005693","descriptor_name":"Galactosemias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005693","descriptor_name":"Galactosemias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005694","descriptor_name":"UTP-Hexose-1-Phosphate Uridylyltransferase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005694","descriptor_name":"UTP-Hexose-1-Phosphate Uridylyltransferase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005694","descriptor_name":"UTP-Hexose-1-Phosphate Uridylyltransferase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005694","descriptor_name":"UTP-Hexose-1-Phosphate Uridylyltransferase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005694","descriptor_name":"UTP-Hexose-1-Phosphate Uridylyltransferase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005694","descriptor_name":"UTP-Hexose-1-Phosphate Uridylyltransferase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009422","descriptor_name":"Nervous System Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009422","descriptor_name":"Nervous System Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009422","descriptor_name":"Nervous System Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009422","descriptor_name":"Nervous System Diseases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009422","descriptor_name":"Nervous System Diseases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009422","descriptor_name":"Nervous System Diseases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D010049","descriptor_name":"Ovarian Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010049","descriptor_name":"Ovarian Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010049","descriptor_name":"Ovarian Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010049","descriptor_name":"Ovarian Diseases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D010049","descriptor_name":"Ovarian Diseases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D010049","descriptor_name":"Ovarian Diseases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014534","descriptor_name":"UDPglucose 4-Epimerase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014534","descriptor_name":"UDPglucose 4-Epimerase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014534","descriptor_name":"UDPglucose 4-Epimerase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014534","descriptor_name":"UDPglucose 4-Epimerase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014534","descriptor_name":"UDPglucose 4-Epimerase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014534","descriptor_name":"UDPglucose 4-Epimerase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/s0168-9525(97)01379-6","doi":"https://doi.org/10.1016/s0168-9525(97)01379-6","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0168-9525(97)01379-6","pdf_url":null,"source":{"id":"https://openalex.org/S139283865","display_name":"Trends in Genetics","issn_l":"0168-9525","issn":["0168-9525","1362-4555"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-200","russia-white-list-1","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":"Trends in Genetics","raw_type":"journal-article"},{"id":"pmid:9540406","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9540406","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Trends in genetics : TIG","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.6240000128746033,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Affordable and clean energy","score":0.8600000143051147,"id":"https://metadata.un.org/sdg/7"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G60787188","display_name":null,"funder_award_id":"P30-DK-48522","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G7609147157","display_name":"USC Research Center for Liver Disease","funder_award_id":"P30DK048522","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"id":"https://openalex.org/F4320320893","display_name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","ror":"https://ror.org/02vjkv261"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":24,"referenced_works":["https://openalex.org/W1557573715","https://openalex.org/W1607526027","https://openalex.org/W1980159156","https://openalex.org/W1981028624","https://openalex.org/W1981197913","https://openalex.org/W1981998898","https://openalex.org/W1983602468","https://openalex.org/W1987229178","https://openalex.org/W1990286006","https://openalex.org/W1998333343","https://openalex.org/W2033903051","https://openalex.org/W2035543062","https://openalex.org/W2037997375","https://openalex.org/W2041114432","https://openalex.org/W2042071604","https://openalex.org/W2051744568","https://openalex.org/W2057186155","https://openalex.org/W2063912699","https://openalex.org/W2065339724","https://openalex.org/W2066509895","https://openalex.org/W2068597957","https://openalex.org/W2072141833","https://openalex.org/W2078883358","https://openalex.org/W2092224562"],"related_works":["https://openalex.org/W2038662707","https://openalex.org/W1977041874","https://openalex.org/W3155923438","https://openalex.org/W3175073004","https://openalex.org/W1881643129","https://openalex.org/W771098527","https://openalex.org/W6919066","https://openalex.org/W2613077048","https://openalex.org/W2093569473","https://openalex.org/W2068597957"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":8},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2016-06-24T00:00:00"}