{"id":"https://openalex.org/W2028736792","doi":"https://doi.org/10.1136/adc.65.1.107","title":"Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.","display_name":"Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.","publication_year":1990,"publication_date":"1990-01-01","ids":{"openalex":"https://openalex.org/W2028736792","doi":"https://doi.org/10.1136/adc.65.1.107","mag":"2028736792","pmid":"https://pubmed.ncbi.nlm.nih.gov/2301971","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1792388"},"language":"en","primary_location":{"id":"doi:10.1136/adc.65.1.107","doi":"https://doi.org/10.1136/adc.65.1.107","is_oa":true,"landing_page_url":"https://doi.org/10.1136/adc.65.1.107","pdf_url":"https://adc.bmj.com/content/archdischild/65/1/107.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/65/1/107.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5006485164","display_name":"Helena Stibler","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"H Stibler","raw_affiliation_strings":["Department of Neurology, Karolinska Hospital, Stockholm, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Karolinska Hospital, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835","https://openalex.org/I28166907"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5105989515","display_name":"J Jaeken","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"J Jaeken","raw_affiliation_strings":["Department of Neurology, Karolinska Hospital, Stockholm, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Karolinska Hospital, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835","https://openalex.org/I28166907"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":3.8273,"has_fulltext":true,"cited_by_count":150,"citation_normalized_percentile":{"value":0.9452946,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"65","issue":"1","first_page":"107","last_page":"111"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10602","display_name":"Glycosylation and Glycoproteins Research","score":0.9355000257492065,"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":0.9355000257492065,"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":0.028300000354647636,"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":0.01590000092983246,"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/transferrin-glycosylation","display_name":"transferrin glycosylation","score":0.7549999952316284},{"id":"https://openalex.org/keywords/sialic-acid-deficiency","display_name":"sialic acid deficiency","score":0.8790000081062317},{"id":"https://openalex.org/keywords/galactose-deficiency","display_name":"galactose deficiency","score":0.8500000238418579},{"id":"https://openalex.org/keywords/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.5490000247955322},{"id":"https://openalex.org/keywords/isoelectric-focusing","display_name":"isoelectric focusing","score":0.6150000095367432},{"id":"https://openalex.org/keywords/anion-exchange-chromatography","display_name":"anion exchange chromatography","score":0.8690000176429749}],"concepts":[{"id":"https://openalex.org/C22814914","wikidata":"https://www.wikidata.org/wiki/Q410473","display_name":"Transferrin","level":2,"score":0.839864194393158},{"id":"https://openalex.org/C2780115458","wikidata":"https://www.wikidata.org/wiki/Q419311","display_name":"Sialic acid","level":2,"score":0.5941283702850342},{"id":"https://openalex.org/C137610392","wikidata":"https://www.wikidata.org/wiki/Q2425020","display_name":"Glycopeptide","level":3,"score":0.5859875679016113},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5789269208908081},{"id":"https://openalex.org/C50476208","wikidata":"https://www.wikidata.org/wiki/Q898861","display_name":"Isoelectric focusing","level":3,"score":0.5781162977218628},{"id":"https://openalex.org/C108625454","wikidata":"https://www.wikidata.org/wiki/Q187126","display_name":"Glycoprotein","level":2,"score":0.5542232990264893},{"id":"https://openalex.org/C96942376","wikidata":"https://www.wikidata.org/wiki/Q21130714","display_name":"Catabolism","level":3,"score":0.5169941186904907},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.5004737377166748},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4929921329021454},{"id":"https://openalex.org/C2781302033","wikidata":"https://www.wikidata.org/wiki/Q2823295","display_name":"Neuraminic acid","level":3,"score":0.4491429924964905},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.4400683343410492},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2581276297569275},{"id":"https://openalex.org/C62231903","wikidata":"https://www.wikidata.org/wiki/Q1057","display_name":"Metabolism","level":2,"score":0.1574479341506958},{"id":"https://openalex.org/C501593827","wikidata":"https://www.wikidata.org/wiki/Q12187","display_name":"Antibiotics","level":2,"score":0.0},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D002239","descriptor_name":"Carbohydrate Metabolism, Inborn Errors","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D002239","descriptor_name":"Carbohydrate Metabolism, Inborn Errors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006130","descriptor_name":"Growth Disorders","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D006130","descriptor_name":"Growth Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D009422","descriptor_name":"Nervous System Diseases","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D009422","descriptor_name":"Nervous System Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014168","descriptor_name":"Transferrin","qualifier_ui":"Q000031","qualifier_name":"analogs & derivatives","is_major_topic":true},{"descriptor_ui":"D014168","descriptor_name":"Transferrin","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D015415","descriptor_name":"Biomarkers","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1136/adc.65.1.107","doi":"https://doi.org/10.1136/adc.65.1.107","is_oa":true,"landing_page_url":"https://doi.org/10.1136/adc.65.1.107","pdf_url":"https://adc.bmj.com/content/archdischild/65/1/107.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":"pmid:2301971","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2301971","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":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:1792388","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1792388/","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"}],"best_oa_location":{"id":"doi:10.1136/adc.65.1.107","doi":"https://doi.org/10.1136/adc.65.1.107","is_oa":true,"landing_page_url":"https://doi.org/10.1136/adc.65.1.107","pdf_url":"https://adc.bmj.com/content/archdischild/65/1/107.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":[{"display_name":"Good health and well-being","score":0.9074000120162964,"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":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2028736792.pdf","grobid_xml":"https://content.openalex.org/works/W2028736792.grobid-xml"},"referenced_works_count":28,"referenced_works":["https://openalex.org/W340723563","https://openalex.org/W1523592797","https://openalex.org/W1562194553","https://openalex.org/W1580023435","https://openalex.org/W1594805827","https://openalex.org/W1774817685","https://openalex.org/W1965429135","https://openalex.org/W1984207951","https://openalex.org/W1999269123","https://openalex.org/W2006299633","https://openalex.org/W2008093581","https://openalex.org/W2013796022","https://openalex.org/W2017226032","https://openalex.org/W2022442015","https://openalex.org/W2028123376","https://openalex.org/W2030513162","https://openalex.org/W2037415053","https://openalex.org/W2052347574","https://openalex.org/W2065133556","https://openalex.org/W2072442349","https://openalex.org/W2128657447","https://openalex.org/W2132392484","https://openalex.org/W2157627187","https://openalex.org/W2175128997","https://openalex.org/W2436001939","https://openalex.org/W2461781588","https://openalex.org/W2484324120","https://openalex.org/W3083339647"],"related_works":["https://openalex.org/W1969888574","https://openalex.org/W1967709694","https://openalex.org/W2417826382","https://openalex.org/W7099170943","https://openalex.org/W1999798731","https://openalex.org/W2055486045","https://openalex.org/W2052630008","https://openalex.org/W2087545294","https://openalex.org/W1975283765","https://openalex.org/W2033923444"],"abstract_inverted_index":{"Four":[0],"patients":[1,89,126],"with":[2,98],"a":[3,203,213],"new,":[4],"inherited,":[5],"complex":[6],"developmental":[7],"deficiency":[8,221],"syndrome":[9,13],"were":[10,60,109],"studied.":[11],"The":[12,160],"affects":[14],"the":[15,23,47,75,88,113,119,122,125,155,169,182,207,219],"central":[16],"and":[17,21,29,37,64,69,74,115,153],"peripheral":[18],"nervous":[19],"system,":[20],"also":[22],"retina,":[24],"liver,":[25],"bone,":[26],"adipose":[27],"tissue,":[28],"genital":[30],"organs.":[31],"Abnormalities":[32],"of":[33,54,57,96,118,149,168,188,218],"glycoproteins,":[34],"glycopeptide":[35],"hormones,":[36],"lipids":[38],"have":[39],"been":[40],"found":[41],"in":[42,80,111,116,124,130,136,142,174,181,222],"serum":[43,58,94],"from":[44,201],"these":[45],"patients,":[46],"most":[48],"pronounced":[49],"being":[50,158],"increased":[51],"cathodal":[52,134],"forms":[53,135],"transferrin.":[55],"Isoforms":[56],"transferrin":[59,81,123,144,175],"therefore":[61],"analysed":[62],"qualitatively":[63],"quantitatively":[65,146],"by":[66,83],"isoelectric":[67,100],"focusing":[68],"isocratic":[70],"anion":[71],"exchange":[72],"chromatography,":[73],"carbohydrate":[76],"composition":[77],"was":[78,127],"determined":[79],"isolated":[82],"immune":[84],"affinity":[85],"chromatography.":[86],"All":[87],"had":[90],"about":[91],"tenfold":[92],"raised":[93],"concentrations":[95],"isotransferrins":[97],"higher":[99],"points":[101],"than":[102],"normal.":[103,159],"Similar":[104],"findings,":[105],"though":[106],"less":[107],"pronounced,":[108],"made":[110],"all":[112,167],"fathers":[114],"one":[117],"mothers.":[120],"Half":[121],"constantly":[128],"present":[129,208],"two":[131,165],"principal":[132],"abnormal":[133],"approximately":[137],"equal":[138],"amounts.":[139],"Carbohydrate":[140],"determinations":[141],"purified":[143],"showed":[145],"similar":[147],"deficiencies":[148],"sialic":[150],"acid,":[151],"galactose,":[152],"N-acetylglucosamine,":[154],"mannose":[156],"content":[157],"results":[161],"suggest":[162],"that":[163],"either":[164],"or":[166,184,186],"normally":[170],"four":[171],"terminal":[172],"trisaccharides":[173],"may":[176,210],"be":[177],"missing.":[178],"A":[179],"defect":[180],"synthesis":[183],"catabolism,":[185],"both,":[187],"this":[189,223],"trisaccharide,":[190],"which":[191],"is":[192,198],"common":[193],"to":[194],"many":[195],"secretory":[196],"glyco-conjugates,":[197],"likely.":[199],"Apart":[200],"providing":[202],"quantitative":[204],"diagnostic":[205],"method,":[206],"findings":[209],"serve":[211],"as":[212],"basis":[214],"for":[215],"further":[216],"studies":[217],"metabolic":[220],"syndrome.":[224]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":3},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}