{"id":"https://openalex.org/W2089500869","doi":"https://doi.org/10.1007/bf02143806","title":"Defective galactosylation in galactosemia: Is low cell UDPgalactose an explanation?","display_name":"Defective galactosylation in galactosemia: Is low cell UDPgalactose an explanation?","publication_year":1995,"publication_date":"1995-02-01","ids":{"openalex":"https://openalex.org/W2089500869","doi":"https://doi.org/10.1007/bf02143806","mag":"2089500869","pmid":"https://pubmed.ncbi.nlm.nih.gov/7671968"},"language":"en","primary_location":{"id":"doi:10.1007/bf02143806","doi":"https://doi.org/10.1007/bf02143806","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf02143806","pdf_url":null,"source":{"id":"https://openalex.org/S48201647","display_name":"European Journal of Pediatrics","issn_l":"0340-6199","issn":["0340-6199","1432-1076"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European 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/A5113556670","display_name":"Stanton Segal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Stanton Segal","raw_affiliation_strings":["Division of Biochemical Development and Molecular Diseases, Children's Hospital of Philadelphia, PA 19104, USA","Division of Biochemical Development and Molecular Diseases, Children\u2019s Hospital of Philadelphia, Philadelphia, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Biochemical Development and Molecular Diseases, Children's Hospital of Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Division of Biochemical Development and Molecular Diseases, Children\u2019s Hospital of Philadelphia, Philadelphia, USA","institution_ids":["https://openalex.org/I1335321130"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5113556670"],"corresponding_institution_ids":["https://openalex.org/I1335321130"],"apc_list":{"value":2990,"currency":"USD","value_usd":2990},"apc_paid":null,"fwci":1.2504,"has_fulltext":false,"cited_by_count":24,"citation_normalized_percentile":{"value":0.7930622,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":94},"biblio":{"volume":"154","issue":"S2","first_page":"S65","last_page":"S71"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9678000211715698,"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":0.9678000211715698,"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":0.01489999983459711,"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"}},{"id":"https://openalex.org/T10602","display_name":"Glycosylation and Glycoproteins Research","score":0.004999999888241291,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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"}}],"keywords":[{"id":"https://openalex.org/keywords/galactosemia","display_name":"galactosemia","score":1.0},{"id":"https://openalex.org/keywords/galactosylation","display_name":"galactosylation","score":0.843999981880188},{"id":"https://openalex.org/keywords/udp-galactose","display_name":"UDP-galactose","score":0.8759999871253967},{"id":"https://openalex.org/keywords/udp-glucose","display_name":"UDP-glucose","score":0.6480000019073486},{"id":"https://openalex.org/keywords/udp-galactose-4-epimerase","display_name":"UDP-galactose 4-epimerase","score":0.8989999890327454},{"id":"https://openalex.org/keywords/erythrocytes","display_name":"erythrocytes","score":0.7009999752044678},{"id":"https://openalex.org/keywords/fibroblasts","display_name":"fibroblasts","score":0.968999981880188},{"id":"https://openalex.org/keywords/leukocytes","display_name":"leukocytes","score":0.9390000104904175},{"id":"https://openalex.org/keywords/glycoconjugates","display_name":"glycoconjugates","score":0.8659999966621399},{"id":"https://openalex.org/keywords/late-complications","display_name":"late complications","score":0.7049999833106995},{"id":"https://openalex.org/keywords/galactose-transfer","display_name":"galactose transfer","score":0.7829999923706055}],"concepts":[{"id":"https://openalex.org/C2779274956","wikidata":"https://www.wikidata.org/wiki/Q774483","display_name":"Galactosemia","level":3,"score":0.888408362865448},{"id":"https://openalex.org/C2778152042","wikidata":"https://www.wikidata.org/wiki/Q412593","display_name":"Uridine diphosphate","level":3,"score":0.7524369955062866},{"id":"https://openalex.org/C2781259782","wikidata":"https://www.wikidata.org/wiki/Q422573","display_name":"Uridine","level":4,"score":0.5943962931632996},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.5266518592834473},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5218357443809509},{"id":"https://openalex.org/C13426554","wikidata":"https://www.wikidata.org/wiki/Q416019","display_name":"Glycoconjugate","level":2,"score":0.5067086815834045},{"id":"https://openalex.org/C2778173381","wikidata":"https://www.wikidata.org/wiki/Q66589593","display_name":"Galactose","level":2,"score":0.4871325194835663},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4818200170993805},{"id":"https://openalex.org/C2777208419","wikidata":"https://www.wikidata.org/wiki/Q4347672","display_name":"Red Cell","level":2,"score":0.4267452359199524},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.396393746137619},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2921068072319031},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.21511977910995483},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.1574370563030243},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D005690","descriptor_name":"Galactose","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D005693","descriptor_name":"Galactosemias","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D005693","descriptor_name":"Galactosemias","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014531","descriptor_name":"Uridine Diphosphate Galactose","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D014531","descriptor_name":"Uridine Diphosphate Galactose","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D014532","descriptor_name":"Uridine Diphosphate Glucose","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D014532","descriptor_name":"Uridine Diphosphate Glucose","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/bf02143806","doi":"https://doi.org/10.1007/bf02143806","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf02143806","pdf_url":null,"source":{"id":"https://openalex.org/S48201647","display_name":"European Journal of Pediatrics","issn_l":"0340-6199","issn":["0340-6199","1432-1076"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Pediatrics","raw_type":"journal-article"},{"id":"pmid:7671968","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7671968","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":"European journal of pediatrics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.7246000170707703,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G5924383292","display_name":null,"funder_award_id":"P01 29847","funder_id":"https://openalex.org/F4320332505","funder_display_name":"U.S. Public Health Service"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320332505","display_name":"U.S. Public Health Service","ror":"https://ror.org/05xf94514"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":22,"referenced_works":["https://openalex.org/W1523064431","https://openalex.org/W1538094224","https://openalex.org/W1981197913","https://openalex.org/W1982983845","https://openalex.org/W1989850828","https://openalex.org/W1992035316","https://openalex.org/W1996972802","https://openalex.org/W2008656879","https://openalex.org/W2018199568","https://openalex.org/W2022017065","https://openalex.org/W2050307691","https://openalex.org/W2059886793","https://openalex.org/W2060570653","https://openalex.org/W2061582771","https://openalex.org/W2063185833","https://openalex.org/W2063912699","https://openalex.org/W2066509895","https://openalex.org/W2087265724","https://openalex.org/W2088796879","https://openalex.org/W2108403189","https://openalex.org/W2119311856","https://openalex.org/W2328694970"],"related_works":["https://openalex.org/W2059886793","https://openalex.org/W2087265724","https://openalex.org/W2018199568","https://openalex.org/W1982983845","https://openalex.org/W1992035316","https://openalex.org/W2008656879","https://openalex.org/W2022017065","https://openalex.org/W2108403189","https://openalex.org/W2145526768","https://openalex.org/W2092596623"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2017,"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"}
