{"id":"https://openalex.org/W2018337026","doi":"https://doi.org/10.1007/s10545-007-0760-2","title":"Amnionless ( AMN ) mutations in Imerslund\u2013Gr\u00e4sbeck syndrome may be associated with disturbed vitamin B 12 transport into the CNS","display_name":"Amnionless ( AMN ) mutations in Imerslund\u2013Gr\u00e4sbeck syndrome may be associated with disturbed vitamin B 12 transport into the CNS","publication_year":2008,"publication_date":"2008-01-07","ids":{"openalex":"https://openalex.org/W2018337026","doi":"https://doi.org/10.1007/s10545-007-0760-2","mag":"2018337026","pmid":"https://pubmed.ncbi.nlm.nih.gov/18181028"},"language":"en","primary_location":{"id":"doi:10.1007/s10545-007-0760-2","doi":"https://doi.org/10.1007/s10545-007-0760-2","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10545-007-0760-2","pdf_url":null,"source":{"id":"https://openalex.org/S186577254","display_name":"Journal of Inherited Metabolic Disease","issn_l":"0141-8955","issn":["0141-8955","1573-2665"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","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":"Journal of Inherited Metabolic Disease","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/A5069338641","display_name":"ANTHONY S. LUDER","orcid":"https://orcid.org/0000-0002-1349-1019","observed_orcids":["https://orcid.org/0000-0002-1349-1019"]},"institutions":[{"id":"https://openalex.org/I174306211","display_name":"Technion \u2013 Israel Institute of Technology","ror":"https://ror.org/03qryx823","country_code":"IL","type":"education","lineage":["https://openalex.org/I174306211"]},{"id":"https://openalex.org/I2801977241","display_name":"Rebecca Sieff Hospital","ror":"https://ror.org/05mw4gk09","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2801977241"]}],"countries":["IL"],"is_corresponding":true,"raw_author_name":"A. S. Luder","raw_affiliation_strings":["Department of Paediatrics, Ziv Medical Centre, Safed, 13100 Israel","Department of Paediatrics, Ziv Medical Center, Safed and Faculty of Medicine, Technion, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, Ziv Medical Centre, Safed, 13100 Israel","institution_ids":["https://openalex.org/I2801977241"]},{"raw_affiliation_string":"Department of Paediatrics, Ziv Medical Center, Safed and Faculty of Medicine, Technion, Haifa, Israel","institution_ids":["https://openalex.org/I174306211","https://openalex.org/I2801977241"]}]},{"author_position":"middle","author":{"id":null,"display_name":"S. M. Tanner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I52357470","display_name":"The Ohio State University","ror":"https://ror.org/00rs6vg23","country_code":"US","type":"education","lineage":["https://openalex.org/I52357470"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S. M. Tanner","raw_affiliation_strings":["Human Cancer Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Cancer Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA","institution_ids":["https://openalex.org/I52357470"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063189075","display_name":"Albert de la Chapelle","orcid":"https://orcid.org/0000-0001-9345-9248","observed_orcids":["https://orcid.org/0000-0001-9345-9248"]},"institutions":[{"id":"https://openalex.org/I52357470","display_name":"The Ohio State University","ror":"https://ror.org/00rs6vg23","country_code":"US","type":"education","lineage":["https://openalex.org/I52357470"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A. de la Chapelle","raw_affiliation_strings":["Human Cancer Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Cancer Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA","institution_ids":["https://openalex.org/I52357470"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109878747","display_name":"John H. Walter","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210160221","display_name":"Royal Manchester Children's Hospital","ror":"https://ror.org/052vjje65","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852","https://openalex.org/I4210160221"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"J. H. Walter","raw_affiliation_strings":["Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK","institution_ids":["https://openalex.org/I4210160221"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5069338641"],"corresponding_institution_ids":["https://openalex.org/I174306211","https://openalex.org/I2801977241"],"apc_list":{"value":3470,"currency":"USD","value_usd":3470},"apc_paid":null,"fwci":1.7058,"has_fulltext":false,"cited_by_count":31,"citation_normalized_percentile":{"value":0.82493631,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"31","issue":"S3","first_page":"493","last_page":"496"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10499","display_name":"Folate and B Vitamins Research","score":0.9115999937057495,"subfield":{"id":"https://openalex.org/subfields/2916","display_name":"Nutrition and Dietetics"},"field":{"id":"https://openalex.org/fields/29","display_name":"Nursing"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10499","display_name":"Folate and B Vitamins Research","score":0.9115999937057495,"subfield":{"id":"https://openalex.org/subfields/2916","display_name":"Nutrition and Dietetics"},"field":{"id":"https://openalex.org/fields/29","display_name":"Nursing"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.02850000001490116,"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/T10570","display_name":"Drug Transport and Resistance Mechanisms","score":0.010900000110268593,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/imerslund-grasbeck-syndrome","display_name":"Imerslund-Gr\u00e4sbeck syndrome","score":0.9869999885559082},{"id":"https://openalex.org/keywords/cobalamin-transport","display_name":"cobalamin transport","score":0.847000002861023},{"id":"https://openalex.org/keywords/vitamin-b12-malabsorption","display_name":"vitamin B12 malabsorption","score":0.8820000290870667},{"id":"https://openalex.org/keywords/blood-brain-barrier","display_name":"blood-brain barrier","score":0.8610000014305115},{"id":"https://openalex.org/keywords/cubilin","display_name":"cubilin","score":0.902999997138977},{"id":"https://openalex.org/keywords/terminal-ileum","display_name":"terminal ileum","score":0.7900000214576721},{"id":"https://openalex.org/keywords/schilling-test","display_name":"Schilling test","score":0.796999990940094},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.7289999723434448},{"id":"https://openalex.org/keywords/neuropsychiatric-symptoms","display_name":"neuropsychiatric symptoms","score":0.6140000224113464}],"concepts":[{"id":"https://openalex.org/C2780676250","wikidata":"https://www.wikidata.org/wiki/Q187706","display_name":"Cobalamin","level":3,"score":0.8613508343696594},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.5441069006919861},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.5322138071060181},{"id":"https://openalex.org/C2780439177","wikidata":"https://www.wikidata.org/wiki/Q1442923","display_name":"Malabsorption","level":2,"score":0.5238321423530579},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5027532577514648},{"id":"https://openalex.org/C168785527","wikidata":"https://www.wikidata.org/wiki/Q1401099","display_name":"Solute carrier family","level":4,"score":0.5021231174468994},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4999091625213623},{"id":"https://openalex.org/C529278444","wikidata":"https://www.wikidata.org/wiki/Q47273","display_name":"Central nervous system","level":2,"score":0.46963047981262207},{"id":"https://openalex.org/C201539569","wikidata":"https://www.wikidata.org/wiki/Q2596185","display_name":"Interstitial cell of Cajal","level":3,"score":0.44122105836868286},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.4312230050563812},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3064066767692566},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.24622806906700134},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.24214613437652588},{"id":"https://openalex.org/C2779750884","wikidata":"https://www.wikidata.org/wiki/Q187706","display_name":"Vitamin B12","level":2,"score":0.23293495178222656},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1692574918270111},{"id":"https://openalex.org/C149011108","wikidata":"https://www.wikidata.org/wiki/Q652985","display_name":"Transporter","level":3,"score":0.1252320110797882},{"id":"https://openalex.org/C2992686903","wikidata":"https://www.wikidata.org/wiki/Q208453","display_name":"Smooth muscle","level":2,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1007/s10545-007-0760-2","doi":"https://doi.org/10.1007/s10545-007-0760-2","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10545-007-0760-2","pdf_url":null,"source":{"id":"https://openalex.org/S186577254","display_name":"Journal of Inherited Metabolic Disease","issn_l":"0141-8955","issn":["0141-8955","1573-2665"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","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":"Journal of Inherited Metabolic Disease","raw_type":"journal-article"},{"id":"pmid:18181028","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18181028","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":"Journal of inherited metabolic disease","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9476000070571899,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[{"id":"https://openalex.org/G9000887552","display_name":"Cancer Center Support Grant","funder_award_id":"P30CA016058","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"}],"funders":[{"id":"https://openalex.org/F4320309374","display_name":"Ohio State University","ror":"https://ror.org/00rs6vg23"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":19,"referenced_works":["https://openalex.org/W1515455984","https://openalex.org/W1991040414","https://openalex.org/W2003129017","https://openalex.org/W2017373830","https://openalex.org/W2054243219","https://openalex.org/W2067649390","https://openalex.org/W2074618122","https://openalex.org/W2082425697","https://openalex.org/W2105291798","https://openalex.org/W2107730792","https://openalex.org/W2133494207","https://openalex.org/W2140175765","https://openalex.org/W2141473929","https://openalex.org/W2148186722","https://openalex.org/W2161164653","https://openalex.org/W2182290828","https://openalex.org/W2254788306","https://openalex.org/W2334381900","https://openalex.org/W2412307791"],"related_works":["https://openalex.org/W2169665134","https://openalex.org/W1990538137","https://openalex.org/W7098597333","https://openalex.org/W2134812198","https://openalex.org/W6929953091","https://openalex.org/W2410790678","https://openalex.org/W7221025339","https://openalex.org/W2161164653","https://openalex.org/W2965187265","https://openalex.org/W2099994360"],"abstract_inverted_index":{"Familial":[0],"selective":[1,21],"vitamin":[2],"B12":[3],"(cobalamin,":[4],"Cbl)":[5],"malabsorption":[6,22],"(Imerslund-Gr\u00e4sbeck":[7],"syndrome,":[8],"IGS,":[9,131],"OMIM":[10],"261100)":[11],"is":[12,62,90,95,205,219,239,265],"a":[13,57,122,135,138,151,186,193],"group":[14],"of":[15,23,32,49,69,85,111,168,176,196,260],"autosomal":[16],"recessive":[17],"disorders":[18],"characterized":[19],"by":[20],"Cbl":[24,70,77,86,170,177,225,244],"from":[25],"the":[26,30,37,65,72,80,88,109,117,142,174,179,200,211,236,248,253,270],"terminal":[27,81,201,271],"ileum":[28],"in":[29,36,64,71,79,102,141,210,224,227,266,269],"presence":[31,110],"normal":[33,83],"histology.":[34],"Mutations":[35],"amnionless":[38,143,254],"(AMN)":[39,144,255],"and":[40,67,93,137,164,185,213,218,251],"cubilin":[41],"(CUBN)":[42],"genes":[43],"are":[44],"known":[45,96,206,220],"to":[46,55,76,149,207,221],"be":[47,208,222,258],"causes":[48],"IGS.":[50],"Their":[51],"gene":[52],"products":[53],"combine":[54],"form":[56],"receptor":[58],"complex":[59],"(cubam),":[60],"which":[61],"instrumental":[63],"binding":[66],"transport":[68,78,84,114,175,198,226,245,268],"gut.":[73,237],"As":[74],"opposed":[75],"ileum,":[82],"into":[87,116,178],"CNS":[89],"poorly":[91],"understood":[92],"little":[94],"regarding":[97],"its":[98],"molecular":[99],"basis.":[100],"Studies":[101],"adults":[103],"with":[104,130,192],"neuropsychiatric":[105],"disease":[106],"have":[107,150],"suggested":[108],"an":[112,242],"active":[113,243],"mechanism":[115,246],"central":[118,180,215],"nervous":[119,181,216],"system":[120,182],"constituting":[121],"blood-brain":[123],"barrier":[124],"(BBB)":[125],"for":[126,134,157,161],"Cbl.":[127],"A":[128],"child":[129],"compound":[132],"heterozygous":[133],"missense":[136],"nonsense":[139],"mutation":[140],"protein":[145,204,256],"gene,":[146],"was":[147,183,190],"noted":[148],"high":[152],"daily":[153],"cobalamin":[154,197,267],"(Cbl)":[155],"requirement":[156],"neuropsychiatric,":[158],"but":[159],"not":[160],"systemic":[162],"metabolic":[163],"haematological,":[165],"remission.":[166],"Measurements":[167],"CSF":[169],"revealed":[171],"evidence":[172],"that":[173,241,252],"impaired,":[184],"standard":[187],"Schilling":[188],"test":[189],"consistent":[191],"dose":[194],"response":[195],"across":[199],"ileum.":[202,272],"Amnionless":[203],"expressed":[209],"fetal":[212],"postnatal":[214],"system,":[217],"involved":[223],"other":[228],"tissues":[229],"such":[230],"as":[231,233,235,263],"kidney":[232],"well":[234],"It":[238],"possible":[240],"at":[247],"BBB":[249],"exists,":[250],"may":[257],"part":[259],"this":[261],"mechanism,":[262],"it":[264]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":3},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}
