{"id":"https://openalex.org/W2053971534","doi":"https://doi.org/10.1016/s0022-3476(66)80392-x","title":"Galactosemia: Symptomatic and asymptomatic homozygotes in one Negro sibship","display_name":"Galactosemia: Symptomatic and asymptomatic homozygotes in one Negro sibship","publication_year":1966,"publication_date":"1966-04-01","ids":{"openalex":"https://openalex.org/W2053971534","doi":"https://doi.org/10.1016/s0022-3476(66)80392-x","mag":"2053971534"},"language":"en","primary_location":{"id":"doi:10.1016/s0022-3476(66)80392-x","doi":"https://doi.org/10.1016/s0022-3476(66)80392-x","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0022-3476(66)80392-x","pdf_url":null,"source":{"id":"https://openalex.org/S3774022","display_name":"The Journal of Pediatrics","issn_l":"0022-3476","issn":["0022-3476","1085-8695","1097-6833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","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":"The Journal of Pediatrics","raw_type":"journal-article"},"volume":null,"type":"article","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":"https://openalex.org/A5103385782","display_name":"Lester Baker","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"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lester Baker","raw_affiliation_strings":["Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pa., USA","National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Md. USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pa., USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Md. USA","institution_ids":["https://openalex.org/I1299303238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113599066","display_name":"William J. Mellman","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"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William J. Mellman","raw_affiliation_strings":["Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pa., USA","National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Md. USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pa., USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Md. USA","institution_ids":["https://openalex.org/I1299303238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111705714","display_name":"Thomas A. Tedesco","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"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thomas A. Tedesco","raw_affiliation_strings":["Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pa., USA","National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Md. USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pa., USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Md. USA","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"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Stanton Segal","raw_affiliation_strings":["Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pa., USA","National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Md. USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pa., USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Md. USA","institution_ids":["https://openalex.org/I1299303238"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4570,"currency":"USD","value_usd":4570},"apc_paid":null,"fwci":7.3827,"has_fulltext":false,"cited_by_count":53,"citation_normalized_percentile":{"value":0.97624434,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"68","issue":"4","first_page":"551","last_page":"558"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9994999766349792,"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":0.9994999766349792,"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":9.999999747378752e-05,"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":9.999999747378752e-05,"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/galactosemia","display_name":"galactosemia","score":0.9430000185966492},{"id":"https://openalex.org/keywords/galactose-1-phosphate-uridyltransferase","display_name":"galactose-1-phosphate uridyltransferase","score":0.8519999980926514},{"id":"https://openalex.org/keywords/sibships","display_name":"sibships","score":0.6679999828338623},{"id":"https://openalex.org/keywords/african-american-patients","display_name":"African American patients","score":0.5699999928474426},{"id":"https://openalex.org/keywords/galactose-1-phosphate","display_name":"galactose-1-phosphate","score":0.6389999985694885},{"id":"https://openalex.org/keywords/red-blood-cell-enzyme-activity","display_name":"red blood cell enzyme activity","score":0.6079999804496765}],"concepts":[{"id":"https://openalex.org/C2779274956","wikidata":"https://www.wikidata.org/wiki/Q774483","display_name":"Galactosemia","level":3,"score":0.9833459854125977},{"id":"https://openalex.org/C2777910003","wikidata":"https://www.wikidata.org/wiki/Q1707292","display_name":"Asymptomatic","level":2,"score":0.8565022945404053},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7491461634635925},{"id":"https://openalex.org/C2776194465","wikidata":"https://www.wikidata.org/wiki/Q31184","display_name":"Sibling","level":2,"score":0.7161094546318054},{"id":"https://openalex.org/C2780430339","wikidata":"https://www.wikidata.org/wiki/Q10861465","display_name":"Brother","level":2,"score":0.6885015368461609},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4446059763431549},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.43264901638031006},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4122944474220276},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1506786346435547},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.12778615951538086},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.07523047924041748},{"id":"https://openalex.org/C2778173381","wikidata":"https://www.wikidata.org/wiki/Q66589593","display_name":"Galactose","level":2,"score":0.07507824897766113},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0},{"id":"https://openalex.org/C138496976","wikidata":"https://www.wikidata.org/wiki/Q175002","display_name":"Developmental psychology","level":1,"score":0.0},{"id":"https://openalex.org/C19165224","wikidata":"https://www.wikidata.org/wiki/Q23404","display_name":"Anthropology","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/s0022-3476(66)80392-x","doi":"https://doi.org/10.1016/s0022-3476(66)80392-x","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0022-3476(66)80392-x","pdf_url":null,"source":{"id":"https://openalex.org/S3774022","display_name":"The Journal of Pediatrics","issn_l":"0022-3476","issn":["0022-3476","1085-8695","1097-6833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","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":"The Journal of Pediatrics","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":22,"referenced_works":["https://openalex.org/W1497245978","https://openalex.org/W1570626860","https://openalex.org/W1975397569","https://openalex.org/W1983737068","https://openalex.org/W1989725483","https://openalex.org/W1990761775","https://openalex.org/W1992291303","https://openalex.org/W1996158055","https://openalex.org/W2015443702","https://openalex.org/W2031516693","https://openalex.org/W2058775953","https://openalex.org/W2075447879","https://openalex.org/W2077130555","https://openalex.org/W2090259492","https://openalex.org/W2265672525","https://openalex.org/W2266929960","https://openalex.org/W2299378948","https://openalex.org/W2408596392","https://openalex.org/W2415947839","https://openalex.org/W2465273337","https://openalex.org/W2467449772","https://openalex.org/W6693512587"],"related_works":["https://openalex.org/W7098909941","https://openalex.org/W2414740180","https://openalex.org/W2096911571","https://openalex.org/W2418621296","https://openalex.org/W4248427089","https://openalex.org/W2093600639","https://openalex.org/W1602062925","https://openalex.org/W2914308997","https://openalex.org/W2071001685","https://openalex.org/W2031516693"],"abstract_inverted_index":null,"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
