{"id":"https://openalex.org/W1998333343","doi":"https://doi.org/10.1016/s0022-3476(78)80351-5","title":"Newborn screening for galactosemia and other galactose metabolic defects","display_name":"Newborn screening for galactosemia and other galactose metabolic defects","publication_year":1978,"publication_date":"1978-06-01","ids":{"openalex":"https://openalex.org/W1998333343","doi":"https://doi.org/10.1016/s0022-3476(78)80351-5","mag":"1998333343","pmid":"https://pubmed.ncbi.nlm.nih.gov/660351"},"language":"en","primary_location":{"id":"doi:10.1016/s0022-3476(78)80351-5","doi":"https://doi.org/10.1016/s0022-3476(78)80351-5","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0022-3476(78)80351-5","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","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/A5112778417","display_name":"Harvey L. Levy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Harvey L. Levy","raw_affiliation_strings":["Department of Neurology, Harvard Medical School, Boston, Mass. USA","Department of Public Health, the Joseph P. Kennedy Jr. Laboratories of the Neurology Service, Massachusetts General Hospital, Boston, Mass. USA","State Laboratory Institute, Massachusetts, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Harvard Medical School, Boston, Mass. USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Department of Public Health, the Joseph P. Kennedy Jr. Laboratories of the Neurology Service, Massachusetts General Hospital, Boston, Mass. USA","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"State Laboratory Institute, Massachusetts, USA","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5041668483","display_name":"G. Hammersen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gerhard Hammersen","raw_affiliation_strings":["Department of Neurology, Harvard Medical School, Boston, Mass. USA","Department of Public Health, the Joseph P. Kennedy Jr. Laboratories of the Neurology Service, Massachusetts General Hospital, Boston, Mass. USA","State Laboratory Institute, Massachusetts, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Harvard Medical School, Boston, Mass. USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Department of Public Health, the Joseph P. Kennedy Jr. Laboratories of the Neurology Service, Massachusetts General Hospital, Boston, Mass. USA","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"State Laboratory Institute, Massachusetts, USA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5112778417"],"corresponding_institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"],"apc_list":{"value":4570,"currency":"USD","value_usd":4570},"apc_paid":null,"fwci":5.6988,"has_fulltext":false,"cited_by_count":99,"citation_normalized_percentile":{"value":0.97056545,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"92","issue":"6","first_page":"871","last_page":"877"},"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"},"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":0.9890000224113464},{"id":"https://openalex.org/keywords/newborn-screening","display_name":"newborn screening","score":0.968999981880188},{"id":"https://openalex.org/keywords/galactose-1-phosphate-uridylylase-deficiency","display_name":"galactose-1-phosphate uridylylase deficiency","score":0.734000027179718},{"id":"https://openalex.org/keywords/galactokinase-deficiency","display_name":"galactokinase deficiency","score":0.9100000262260437},{"id":"https://openalex.org/keywords/galactose-1-phosphate","display_name":"galactose-1-phosphate","score":0.7229999899864197},{"id":"https://openalex.org/keywords/bacterial-sepsis","display_name":"bacterial sepsis","score":0.7549999952316284},{"id":"https://openalex.org/keywords/cataract","display_name":"cataract","score":0.45500001311302185},{"id":"https://openalex.org/keywords/infant-mortality-prevention","display_name":"infant mortality prevention","score":0.4410000145435333}],"concepts":[{"id":"https://openalex.org/C2779274956","wikidata":"https://www.wikidata.org/wiki/Q774483","display_name":"Galactosemia","level":3,"score":0.9973077774047852},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9041527509689331},{"id":"https://openalex.org/C2776169613","wikidata":"https://www.wikidata.org/wiki/Q2305910","display_name":"Newborn screening","level":2,"score":0.8744221925735474},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.7182936668395996},{"id":"https://openalex.org/C2780225610","wikidata":"https://www.wikidata.org/wiki/Q127724","display_name":"Cataracts","level":2,"score":0.7015685439109802},{"id":"https://openalex.org/C2778384902","wikidata":"https://www.wikidata.org/wiki/Q183134","display_name":"Sepsis","level":2,"score":0.49197623133659363},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2702849507331848},{"id":"https://openalex.org/C2778173381","wikidata":"https://www.wikidata.org/wiki/Q66589593","display_name":"Galactose","level":2,"score":0.18527844548225403},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.0},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D002239","descriptor_name":"Carbohydrate Metabolism, Inborn Errors","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D002239","descriptor_name":"Carbohydrate Metabolism, Inborn Errors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002239","descriptor_name":"Carbohydrate Metabolism, Inborn Errors","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D003365","descriptor_name":"Costs and Cost Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005690","descriptor_name":"Galactose","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D005693","descriptor_name":"Galactosemias","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D005693","descriptor_name":"Galactosemias","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007232","descriptor_name":"Infant, Newborn, Diseases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008403","descriptor_name":"Mass Screening","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/s0022-3476(78)80351-5","doi":"https://doi.org/10.1016/s0022-3476(78)80351-5","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0022-3476(78)80351-5","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"},{"id":"pmid:660351","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/660351","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":"The Journal of pediatrics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8600000143051147}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W214864586","https://openalex.org/W1526249708","https://openalex.org/W1536850607","https://openalex.org/W1840988863","https://openalex.org/W1858143298","https://openalex.org/W1972966475","https://openalex.org/W1998919765","https://openalex.org/W2002787637","https://openalex.org/W2008675755","https://openalex.org/W2026724332","https://openalex.org/W2030828806","https://openalex.org/W2036197246","https://openalex.org/W2043761037","https://openalex.org/W2052125294","https://openalex.org/W2053971534","https://openalex.org/W2064375603","https://openalex.org/W2075251223","https://openalex.org/W2084779432","https://openalex.org/W2109034664","https://openalex.org/W2128101815","https://openalex.org/W2333598726","https://openalex.org/W2339614918","https://openalex.org/W2403849930","https://openalex.org/W2437241187","https://openalex.org/W2472415133","https://openalex.org/W2568341068","https://openalex.org/W3145894777","https://openalex.org/W4211232757"],"related_works":["https://openalex.org/W2058770856","https://openalex.org/W2137000073","https://openalex.org/W2100664668","https://openalex.org/W4313466066","https://openalex.org/W2066854085","https://openalex.org/W2945454818","https://openalex.org/W2056226249","https://openalex.org/W4232854491","https://openalex.org/W2462123076","https://openalex.org/W2795924075"],"abstract_inverted_index":null,"counts_by_year":[{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
