{"id":"https://openalex.org/W2172118729","doi":"https://doi.org/10.1093/glycob/cwj021","title":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia","display_name":"Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia","publication_year":2005,"publication_date":"2005-07-21","ids":{"openalex":"https://openalex.org/W2172118729","doi":"https://doi.org/10.1093/glycob/cwj021","mag":"2172118729","pmid":"https://pubmed.ncbi.nlm.nih.gov/16037488"},"language":"en","primary_location":{"id":"doi:10.1093/glycob/cwj021","doi":"https://doi.org/10.1093/glycob/cwj021","is_oa":false,"landing_page_url":"https://doi.org/10.1093/glycob/cwj021","pdf_url":null,"source":{"id":"https://openalex.org/S188363740","display_name":"Glycobiology","issn_l":"0959-6658","issn":["0959-6658","1460-2423"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Glycobiology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5069447810","display_name":"Luisa Sturiale","orcid":"https://orcid.org/0000-0002-3996-1138","observed_orcids":["https://orcid.org/0000-0002-3996-1138"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Luisa Sturiale","raw_affiliation_strings":["Istituto di Chimica e Tecnolgia dei Polimeri, CNA, Viale Regina Margherita 6, I-95123 Catania, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Chimica e Tecnolgia dei Polimeri, CNA, Viale Regina Margherita 6, I-95123 Catania, Italy","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062306191","display_name":"Rita Maria Elisa Barone","orcid":"https://orcid.org/0000-0001-6302-2686","observed_orcids":["https://orcid.org/0000-0001-6302-2686"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rita Barone","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003242281","display_name":"Agata Fiumara","orcid":"https://orcid.org/0000-0003-3216-2154","observed_orcids":["https://orcid.org/0000-0003-3216-2154"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Agata Fiumara","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111392079","display_name":"Marta Mart\u00ednez P\u00e9rez","orcid":"https://orcid.org/0009-0004-4475-731X","observed_orcids":["https://orcid.org/0009-0004-4475-731X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Marta Perez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004012533","display_name":"Marco Zaffanello","orcid":"https://orcid.org/0000-0002-8659-5505","observed_orcids":["https://orcid.org/0000-0002-8659-5505"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Marco Zaffanello","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003627356","display_name":"Giovanni Sorge","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Giovanni Sorge","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102905170","display_name":"Lorenzo Pavone","orcid":"https://orcid.org/0009-0009-3885-7142","observed_orcids":["https://orcid.org/0009-0009-3885-7142"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lorenzo Pavone","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051616038","display_name":"Silvia Tortorelli","orcid":"https://orcid.org/0000-0001-8056-9544","observed_orcids":["https://orcid.org/0000-0001-8056-9544"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Silvia Tortorelli","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110087507","display_name":"John F. O\u2019Brien","orcid":"https://orcid.org/0000-0002-4882-1102","observed_orcids":["https://orcid.org/0000-0002-4882-1102"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"John F. O\u2019Brien","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074303150","display_name":"Jaak Jaeken","orcid":"https://orcid.org/0000-0003-1571-9707","observed_orcids":["https://orcid.org/0000-0003-1571-9707"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jaak Jaeken","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5044881711","display_name":"Domenico Garozzo","orcid":"https://orcid.org/0000-0002-9087-9818","observed_orcids":["https://orcid.org/0000-0002-9087-9818"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Domenico Garozzo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5069447810"],"corresponding_institution_ids":[],"apc_list":{"value":4208,"currency":"EUR","value_usd":4756},"apc_paid":null,"fwci":2.1681,"has_fulltext":false,"cited_by_count":115,"citation_normalized_percentile":{"value":0.87612049,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":99},"biblio":{"volume":"15","issue":"12","first_page":"1268","last_page":"1276"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10602","display_name":"Glycosylation and Glycoproteins Research","score":0.6563000082969666,"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"}},"topics":[{"id":"https://openalex.org/T10602","display_name":"Glycosylation and Glycoproteins Research","score":0.6563000082969666,"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"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.24050000309944153,"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":0.06210000067949295,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/galactosemia","display_name":"galactosemia","score":0.9300000071525574},{"id":"https://openalex.org/keywords/classical-galactosemia","display_name":"classic galactosemia","score":0.8410000205039978},{"id":"https://openalex.org/keywords/hypoglycosylation","display_name":"hypoglycosylation","score":0.8220000267028809},{"id":"https://openalex.org/keywords/fucosylation","display_name":"fucosylation","score":0.9559999704360962},{"id":"https://openalex.org/keywords/glycan-branching","display_name":"glycan branching","score":0.8579999804496765},{"id":"https://openalex.org/keywords/congenital-disorders-of-glycosylation","display_name":"congenital disorders of glycosylation","score":0.9599999785423279},{"id":"https://openalex.org/keywords/dietary-therapy","display_name":"dietary therapy","score":0.5860000252723694},{"id":"https://openalex.org/keywords/galactose-deficiency","display_name":"galactose deficiency","score":0.6819999814033508}],"concepts":[{"id":"https://openalex.org/C2779274956","wikidata":"https://www.wikidata.org/wiki/Q774483","display_name":"Galactosemia","level":3,"score":0.9776423573493958},{"id":"https://openalex.org/C2779212266","wikidata":"https://www.wikidata.org/wiki/Q17053974","display_name":"Fucosylation","level":4,"score":0.910468339920044},{"id":"https://openalex.org/C22814914","wikidata":"https://www.wikidata.org/wiki/Q410473","display_name":"Transferrin","level":2,"score":0.7837160229682922},{"id":"https://openalex.org/C2777313579","wikidata":"https://www.wikidata.org/wiki/Q898365","display_name":"Glycosylation","level":2,"score":0.7669297456741333},{"id":"https://openalex.org/C206212055","wikidata":"https://www.wikidata.org/wiki/Q2553138","display_name":"Glycan","level":3,"score":0.7212050557136536},{"id":"https://openalex.org/C108625454","wikidata":"https://www.wikidata.org/wiki/Q187126","display_name":"Glycoprotein","level":2,"score":0.5121886134147644},{"id":"https://openalex.org/C2778173381","wikidata":"https://www.wikidata.org/wiki/Q66589593","display_name":"Galactose","level":2,"score":0.48603755235671997},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.46085113286972046},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.39557212591171265},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.39556756615638733},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3557325005531311},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.31701624393463135}],"mesh":[{"descriptor_ui":"D001665","descriptor_name":"Binding Sites","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002853","descriptor_name":"Chromatography, Liquid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005643","descriptor_name":"Fucose","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D005690","descriptor_name":"Galactose","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D005693","descriptor_name":"Galactosemias","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D005693","descriptor_name":"Galactosemias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006017","descriptor_name":"Glycolipids","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D006023","descriptor_name":"Glycoproteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D006031","descriptor_name":"Glycosylation","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":"D006863","descriptor_name":"Hydrogen-Ion Concentration","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007477","descriptor_name":"Ions","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007525","descriptor_name":"Isoelectric Focusing","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":"D011134","descriptor_name":"Polysaccharides","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D013696","descriptor_name":"Temperature","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014168","descriptor_name":"Transferrin","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":true},{"descriptor_ui":"D014168","descriptor_name":"Transferrin","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D019032","descriptor_name":"Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D021241","descriptor_name":"Spectrometry, Mass, Electrospray Ionization","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1093/glycob/cwj021","doi":"https://doi.org/10.1093/glycob/cwj021","is_oa":false,"landing_page_url":"https://doi.org/10.1093/glycob/cwj021","pdf_url":null,"source":{"id":"https://openalex.org/S188363740","display_name":"Glycobiology","issn_l":"0959-6658","issn":["0959-6658","1460-2423"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Glycobiology","raw_type":"journal-article"},{"id":"pmid:16037488","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16037488","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":"Glycobiology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8371999859809875,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":43,"referenced_works":["https://openalex.org/W155834296","https://openalex.org/W1483242733","https://openalex.org/W1501242798","https://openalex.org/W1588418288","https://openalex.org/W1609950738","https://openalex.org/W1646339178","https://openalex.org/W1775749144","https://openalex.org/W1868168182","https://openalex.org/W1933976164","https://openalex.org/W1966300175","https://openalex.org/W1968118476","https://openalex.org/W1969888574","https://openalex.org/W1970432418","https://openalex.org/W1982131709","https://openalex.org/W1987438311","https://openalex.org/W1992302912","https://openalex.org/W1999425810","https://openalex.org/W1999798731","https://openalex.org/W2000113718","https://openalex.org/W2027313746","https://openalex.org/W2029262194","https://openalex.org/W2030760324","https://openalex.org/W2033058166","https://openalex.org/W2038662707","https://openalex.org/W2039280733","https://openalex.org/W2049979379","https://openalex.org/W2052125294","https://openalex.org/W2055400546","https://openalex.org/W2057186155","https://openalex.org/W2063912699","https://openalex.org/W2082428811","https://openalex.org/W2093072619","https://openalex.org/W2094836284","https://openalex.org/W2095035085","https://openalex.org/W2101613465","https://openalex.org/W2113318948","https://openalex.org/W2117946498","https://openalex.org/W2119311856","https://openalex.org/W2143105570","https://openalex.org/W2145526768","https://openalex.org/W2147483959","https://openalex.org/W2157609914","https://openalex.org/W2170801736"],"related_works":["https://openalex.org/W2170801736","https://openalex.org/W3190986330","https://openalex.org/W2489329048","https://openalex.org/W2057110235","https://openalex.org/W3196401725","https://openalex.org/W2222045275","https://openalex.org/W1996448811","https://openalex.org/W2059886793","https://openalex.org/W2389258161","https://openalex.org/W2029262194"],"abstract_inverted_index":{"Untreated":[0],"classic":[1],"galactosemia":[2,72,95],"(galactose-1-phosphate":[3],"uridyltransferase":[4],"[GALT]":[5],"deficiency)":[6],"is":[7,46,100],"known":[8],"as":[9,63,83,85],"a":[10,48,76,81],"secondary":[11,77],"congenital":[12],"disorders":[13],"of":[14,21,31,51,54],"glycosylation":[15,67],"(CDG)":[16],"characterized":[17],"by":[18],"galactose":[19],"deficiency":[20,50],"glycoproteins":[22],"and":[23,61],"glycolipids":[24],"(processing":[25],"defect":[26],"or":[27],"CDG-II).":[28],"The":[29],"mechanism":[30],"this":[32],"undergalactosylation":[33],"has":[34],"not":[35],"been":[36],"established.":[37],"Here":[38],"we":[39],"show":[40],"that":[41,93],"in":[42,65,94],"untreated":[43],"galactosemia,":[44],"there":[45],"also":[47,91],"partial":[49],"whole":[52],"glycans":[53],"serum":[55],"transferrin":[56,97],"associated":[57],"with":[58],"increased":[59],"fucosylation":[60],"branching":[62],"seen":[64],"genetic":[66],"assembly":[68,87],"defects":[69],"(CDG-I).":[70],"Thus":[71],"seems":[73],"to":[74],"be":[75],"\"dual\"":[78],"CDG":[79],"causing":[80],"processing":[82],"well":[84],"an":[86],"N-glycosylation":[88],"defect.":[89],"We":[90],"demonstrated":[92],"patients,":[96],"N-glycan":[98],"biosynthesis":[99],"restored":[101],"upon":[102],"dietary":[103],"treatment.":[104]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":5},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":9},{"year":2019,"cited_by_count":9},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":6},{"year":2014,"cited_by_count":11},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":5}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
