{"id":"https://openalex.org/W2039870797","doi":"https://doi.org/10.1136/adc.52.12.943","title":"Diagnosis of classical galactosaemia.","display_name":"Diagnosis of classical galactosaemia.","publication_year":1977,"publication_date":"1977-12-01","ids":{"openalex":"https://openalex.org/W2039870797","doi":"https://doi.org/10.1136/adc.52.12.943","mag":"2039870797","pmid":"https://pubmed.ncbi.nlm.nih.gov/606167","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1545032"},"language":"en","primary_location":{"id":"doi:10.1136/adc.52.12.943","doi":"https://doi.org/10.1136/adc.52.12.943","is_oa":true,"landing_page_url":"https://doi.org/10.1136/adc.52.12.943","pdf_url":"https://adc.bmj.com/content/archdischild/52/12/943.full.pdf","source":{"id":"https://openalex.org/S207294652","display_name":"Archives of Disease in Childhood","issn_l":"0003-9888","issn":["0003-9888","1468-2044"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Disease in Childhood","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://adc.bmj.com/content/archdischild/52/12/943.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5072865313","display_name":"Antoinette M. Monk","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800820451","display_name":"Musgrove Park Hospital","ror":"https://ror.org/042fv2404","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800820451"]},{"id":"https://openalex.org/I2801253297","display_name":"Southmead Hospital","ror":"https://ror.org/05d576879","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801253297","https://openalex.org/I4405276282"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"A M Monk","raw_affiliation_strings":["Department ofPaediatrics , Musgrove Park Hospital , Taunton","Department of Clinical Chemistry, Southmead Hospital, Westbury-on-Trym, Bristol BSIO 5NB","From the Department of Clinical Chemistry, Southmead Hospital, Bristol, and Department ofPaediatrics,","Musgrove Park Hospital, Taunton"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department ofPaediatrics , Musgrove Park Hospital , Taunton","institution_ids":["https://openalex.org/I2800820451"]},{"raw_affiliation_string":"Department of Clinical Chemistry, Southmead Hospital, Westbury-on-Trym, Bristol BSIO 5NB","institution_ids":["https://openalex.org/I2801253297"]},{"raw_affiliation_string":"From the Department of Clinical Chemistry, Southmead Hospital, Bristol, and Department ofPaediatrics,","institution_ids":["https://openalex.org/I2801253297"]},{"raw_affiliation_string":"Musgrove Park Hospital, Taunton","institution_ids":["https://openalex.org/I2800820451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100857274","display_name":"A J Mitchell","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800820451","display_name":"Musgrove Park Hospital","ror":"https://ror.org/042fv2404","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800820451"]},{"id":"https://openalex.org/I2801253297","display_name":"Southmead Hospital","ror":"https://ror.org/05d576879","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801253297","https://openalex.org/I4405276282"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"A J Mitchell","raw_affiliation_strings":["Department ofPaediatrics , Musgrove Park Hospital , Taunton","Department of Clinical Chemistry, Southmead Hospital, Westbury-on-Trym, Bristol BSIO 5NB","From the Department of Clinical Chemistry, Southmead Hospital, Bristol, and Department ofPaediatrics,","Musgrove Park Hospital, Taunton"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department ofPaediatrics , Musgrove Park Hospital , Taunton","institution_ids":["https://openalex.org/I2800820451"]},{"raw_affiliation_string":"Department of Clinical Chemistry, Southmead Hospital, Westbury-on-Trym, Bristol BSIO 5NB","institution_ids":["https://openalex.org/I2801253297"]},{"raw_affiliation_string":"From the Department of Clinical Chemistry, Southmead Hospital, Bristol, and Department ofPaediatrics,","institution_ids":["https://openalex.org/I2801253297"]},{"raw_affiliation_string":"Musgrove Park Hospital, Taunton","institution_ids":["https://openalex.org/I2800820451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020792013","display_name":"DWA Milligan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800820451","display_name":"Musgrove Park Hospital","ror":"https://ror.org/042fv2404","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800820451"]},{"id":"https://openalex.org/I2801253297","display_name":"Southmead Hospital","ror":"https://ror.org/05d576879","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801253297","https://openalex.org/I4405276282"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"D W Milligan","raw_affiliation_strings":["From the Department of Clinical Chemistry , Southmead Hospital , Bristol , and","Department of Clinical Chemistry, Southmead Hospital, Westbury-on-Trym, Bristol BSIO 5NB","From the Department of Clinical Chemistry, Southmead Hospital, Bristol, and Department ofPaediatrics,","Musgrove Park Hospital, Taunton"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Clinical Chemistry , Southmead Hospital , Bristol , and","institution_ids":["https://openalex.org/I2801253297"]},{"raw_affiliation_string":"Department of Clinical Chemistry, Southmead Hospital, Westbury-on-Trym, Bristol BSIO 5NB","institution_ids":["https://openalex.org/I2801253297"]},{"raw_affiliation_string":"From the Department of Clinical Chemistry, Southmead Hospital, Bristol, and Department ofPaediatrics,","institution_ids":["https://openalex.org/I2801253297"]},{"raw_affiliation_string":"Musgrove Park Hospital, Taunton","institution_ids":["https://openalex.org/I2800820451"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5110434069","display_name":"J. B. Holton","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800820451","display_name":"Musgrove Park Hospital","ror":"https://ror.org/042fv2404","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800820451"]},{"id":"https://openalex.org/I2801253297","display_name":"Southmead Hospital","ror":"https://ror.org/05d576879","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801253297","https://openalex.org/I4405276282"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"J B Holton","raw_affiliation_strings":["From the Department of Clinical Chemistry , Southmead Hospital , Bristol , and","Department of Clinical Chemistry, Southmead Hospital, Westbury-on-Trym, Bristol BSIO 5NB","From the Department of Clinical Chemistry, Southmead Hospital, Bristol, and Department ofPaediatrics,","Musgrove Park Hospital, Taunton"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Clinical Chemistry , Southmead Hospital , Bristol , and","institution_ids":["https://openalex.org/I2801253297"]},{"raw_affiliation_string":"Department of Clinical Chemistry, Southmead Hospital, Westbury-on-Trym, Bristol BSIO 5NB","institution_ids":["https://openalex.org/I2801253297"]},{"raw_affiliation_string":"From the Department of Clinical Chemistry, Southmead Hospital, Bristol, and Department ofPaediatrics,","institution_ids":["https://openalex.org/I2801253297"]},{"raw_affiliation_string":"Musgrove Park Hospital, Taunton","institution_ids":["https://openalex.org/I2800820451"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.7263,"has_fulltext":true,"cited_by_count":16,"citation_normalized_percentile":{"value":0.64516129,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":94},"biblio":{"volume":"52","issue":"12","first_page":"943","last_page":"946"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9990000128746033,"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":0.9990000128746033,"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/2716","display_name":"Genetics (clinical)"},"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/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"}}],"keywords":[{"id":"https://openalex.org/keywords/classical-galactosaemia","display_name":"classical galactosaemia","score":0.9819999933242798},{"id":"https://openalex.org/keywords/galactose-1-phosphate-uridylylase-deficiency","display_name":"galactose-1-phosphate uridylylase deficiency","score":0.8379999995231628},{"id":"https://openalex.org/keywords/delayed-diagnosis","display_name":"delayed diagnosis","score":0.6779999732971191},{"id":"https://openalex.org/keywords/newborn-screening","display_name":"newborn screening","score":0.7360000014305115},{"id":"https://openalex.org/keywords/reference-values","display_name":"reference values","score":0.7409999966621399}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9034332036972046},{"id":"https://openalex.org/C2780026642","wikidata":"https://www.wikidata.org/wiki/Q40924","display_name":"Urine","level":2,"score":0.5180885195732117},{"id":"https://openalex.org/C2779274956","wikidata":"https://www.wikidata.org/wiki/Q774483","display_name":"Galactosemia","level":3,"score":0.5097941756248474},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.47367483377456665},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.18860214948654175},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.15911313891410828},{"id":"https://openalex.org/C2778173381","wikidata":"https://www.wikidata.org/wiki/Q66589593","display_name":"Galactose","level":2,"score":0.0},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D004796","descriptor_name":"Clinical Enzyme Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005693","descriptor_name":"Galactosemias","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"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":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1136/adc.52.12.943","doi":"https://doi.org/10.1136/adc.52.12.943","is_oa":true,"landing_page_url":"https://doi.org/10.1136/adc.52.12.943","pdf_url":"https://adc.bmj.com/content/archdischild/52/12/943.full.pdf","source":{"id":"https://openalex.org/S207294652","display_name":"Archives of Disease in Childhood","issn_l":"0003-9888","issn":["0003-9888","1468-2044"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Disease in Childhood","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:853919","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1545032","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmid:606167","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/606167","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":"Archives of disease in childhood","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:1545032","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1545032/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Arch Dis Child","raw_type":"Text"},{"id":"pmh:oai:open-archive.highwire.org:archdischild:52/12/943","doi":null,"is_oa":false,"landing_page_url":"http://adc.bmj.com/cgi/content/short/52/12/943","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"TEXT"},{"id":"mag:2742083533","doi":null,"is_oa":false,"landing_page_url":"https://www.researchgate.net/profile/David_Milligan/publication/22536474_Diagnosis_of_classical_galactosaemia/links/00b49528f5f7d56755000000.pdf","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":{"id":"doi:10.1136/adc.52.12.943","doi":"https://doi.org/10.1136/adc.52.12.943","is_oa":true,"landing_page_url":"https://doi.org/10.1136/adc.52.12.943","pdf_url":"https://adc.bmj.com/content/archdischild/52/12/943.full.pdf","source":{"id":"https://openalex.org/S207294652","display_name":"Archives of Disease in Childhood","issn_l":"0003-9888","issn":["0003-9888","1468-2044"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Disease in Childhood","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"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/W2039870797.pdf","grobid_xml":"https://content.openalex.org/works/W2039870797.grobid-xml"},"referenced_works_count":11,"referenced_works":["https://openalex.org/W1526249708","https://openalex.org/W1563607366","https://openalex.org/W1775749144","https://openalex.org/W1983737068","https://openalex.org/W2008675755","https://openalex.org/W2064375603","https://openalex.org/W2339614918","https://openalex.org/W2402110490","https://openalex.org/W2465741764","https://openalex.org/W4206217977","https://openalex.org/W4285719527"],"related_works":["https://openalex.org/W2084034671","https://openalex.org/W3013608310","https://openalex.org/W4415833557","https://openalex.org/W4206421236","https://openalex.org/W2056226249","https://openalex.org/W2008467225","https://openalex.org/W1526249708","https://openalex.org/W2460268556","https://openalex.org/W6992950061","https://openalex.org/W2011002918"],"abstract_inverted_index":{"We":[0],"report":[1],"a":[2,29,40],"child":[3],"with":[4],"classical":[5],"galactosaemia":[6],"whose":[7],"diagnosis":[8],"was":[9],"missed":[10],"until":[11],"12":[12],"weeks":[13],"of":[14,18,28],"age.":[15],"The":[16],"limitations":[17],"urine":[19],"screening":[20,34],"tests":[21],"are":[22,48],"discussed":[23],"and":[24],"the":[25],"wider":[26],"use":[27],"qualitative":[30],"enzyme":[31,42],"assay":[32,43],"for":[33,39],"is":[35],"recommended.":[36],"Reference":[37],"ranges":[38],"quantitative":[41],"using":[44],"14galacoste-1-phosphate":[45],"as":[46],"substrate":[47],"presented.":[49]},"counts_by_year":[{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}