{"id":"https://openalex.org/W2031516693","doi":"https://doi.org/10.1038/1961006a0","title":"Galactose Metabolism : Phenotypic Differences among Tissues of a Patient with Congenital Galactos\u00e6mia","display_name":"Galactose Metabolism : Phenotypic Differences among Tissues of a Patient with Congenital Galactos\u00e6mia","publication_year":1962,"publication_date":"1962-12-01","ids":{"openalex":"https://openalex.org/W2031516693","doi":"https://doi.org/10.1038/1961006a0","mag":"2031516693","pmid":"https://pubmed.ncbi.nlm.nih.gov/13985553"},"language":"en","primary_location":{"id":"doi:10.1038/1961006a0","doi":"https://doi.org/10.1038/1961006a0","is_oa":true,"landing_page_url":"https://doi.org/10.1038/1961006a0","pdf_url":"https://www.nature.com/articles/1961006a0.pdf","source":{"id":"https://openalex.org/S137773608","display_name":"Nature","issn_l":"0028-0836","issn":["0028-0836","1476-4687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.nature.com/articles/1961006a0.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5109984128","display_name":"Yale J. Topper","orcid":null,"observed_orcids":[]},"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":"YALE J. TOPPER","raw_affiliation_strings":["National Institutes of Health, Bethesda, Maryland","National Institutes of Health, Bethesda"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institutes of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238"]},{"raw_affiliation_string":"National Institutes of Health, Bethesda","institution_ids":["https://openalex.org/I1299303238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112182694","display_name":"Leonard Laster","orcid":null,"observed_orcids":[]},"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":"LEONARD LASTER","raw_affiliation_strings":["National Institutes of Health, Bethesda, Maryland","National Institutes of Health, Bethesda"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institutes of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238"]},{"raw_affiliation_string":"National Institutes of Health, Bethesda","institution_ids":["https://openalex.org/I1299303238"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5113556670","display_name":"Stanton Segal","orcid":null,"observed_orcids":[]},"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":"STANTON SEGAL","raw_affiliation_strings":["National Institutes of Health, Bethesda, Maryland","National Institutes of Health, Bethesda"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institutes of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238"]},{"raw_affiliation_string":"National Institutes of Health, Bethesda","institution_ids":["https://openalex.org/I1299303238"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I1299303238"],"apc_list":{"value":12690,"currency":"USD","value_usd":12690},"apc_paid":null,"fwci":1.7837,"has_fulltext":true,"cited_by_count":24,"citation_normalized_percentile":{"value":0.85266458,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":94},"biblio":{"volume":"196","issue":"4858","first_page":"1006","last_page":"1006"},"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/T12068","display_name":"Neonatal Health and Biochemistry","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.00019999999494757503,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/galactose-metabolism","display_name":"galactose metabolism","score":0.9850000143051147},{"id":"https://openalex.org/keywords/galactose-1-phosphate-uridyltransferase-deficiency","display_name":"galactose-1-phosphate uridyltransferase deficiency","score":0.9070000052452087},{"id":"https://openalex.org/keywords/erythrocytes","display_name":"erythrocytes","score":0.7749999761581421}],"concepts":[{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.7731069922447205},{"id":"https://openalex.org/C2778173381","wikidata":"https://www.wikidata.org/wiki/Q66589593","display_name":"Galactose","level":2,"score":0.683422327041626},{"id":"https://openalex.org/C62231903","wikidata":"https://www.wikidata.org/wiki/Q1057","display_name":"Metabolism","level":2,"score":0.5626507997512817},{"id":"https://openalex.org/C2779274956","wikidata":"https://www.wikidata.org/wiki/Q774483","display_name":"Galactosemia","level":3,"score":0.4159519076347351},{"id":"https://openalex.org/C17093226","wikidata":"https://www.wikidata.org/wiki/Q2734081","display_name":"Carbohydrate metabolism","level":2,"score":0.41443151235580444},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.37907418608665466},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.35997870564460754},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3571470379829407},{"id":"https://openalex.org/C42407357","wikidata":"https://www.wikidata.org/wiki/Q521","display_name":"Physiology","level":1,"score":0.35624629259109497},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3355996012687683},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.3082132339477539},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.15902459621429443}],"mesh":[{"descriptor_ui":"D005690","descriptor_name":"Galactose","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005693","descriptor_name":"Galactosemias","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D050260","descriptor_name":"Carbohydrate Metabolism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1038/1961006a0","doi":"https://doi.org/10.1038/1961006a0","is_oa":true,"landing_page_url":"https://doi.org/10.1038/1961006a0","pdf_url":"https://www.nature.com/articles/1961006a0.pdf","source":{"id":"https://openalex.org/S137773608","display_name":"Nature","issn_l":"0028-0836","issn":["0028-0836","1476-4687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature","raw_type":"journal-article"},{"id":"pmid:13985553","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/13985553","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":"Nature","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1038/1961006a0","doi":"https://doi.org/10.1038/1961006a0","is_oa":true,"landing_page_url":"https://doi.org/10.1038/1961006a0","pdf_url":"https://www.nature.com/articles/1961006a0.pdf","source":{"id":"https://openalex.org/S137773608","display_name":"Nature","issn_l":"0028-0836","issn":["0028-0836","1476-4687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8048999905586243,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2031516693.pdf","grobid_xml":"https://content.openalex.org/works/W2031516693.grobid-xml"},"referenced_works_count":8,"referenced_works":["https://openalex.org/W2056160211","https://openalex.org/W2085875454","https://openalex.org/W2126924185","https://openalex.org/W2127082886","https://openalex.org/W2158192671","https://openalex.org/W2417891031","https://openalex.org/W2464798943","https://openalex.org/W2505769245"],"related_works":["https://openalex.org/W2015443702","https://openalex.org/W1974807249","https://openalex.org/W2017999873","https://openalex.org/W2015059769","https://openalex.org/W2007270730","https://openalex.org/W2050293394","https://openalex.org/W2086998035","https://openalex.org/W2040067845","https://openalex.org/W3175073004","https://openalex.org/W137110113"],"abstract_inverted_index":null,"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}