{"id":"https://openalex.org/W2169512239","doi":"https://doi.org/10.4321/s0212-71992002000400001","title":"Hemocromatosis: del fenotipo al genotipo","display_name":"Hemocromatosis: del fenotipo al genotipo","publication_year":2002,"publication_date":"2002-04-01","ids":{"openalex":"https://openalex.org/W2169512239","doi":"https://doi.org/10.4321/s0212-71992002000400001","mag":"2169512239"},"language":"es","primary_location":{"id":"doi:10.4321/s0212-71992002000400001","doi":"https://doi.org/10.4321/s0212-71992002000400001","is_oa":true,"landing_page_url":"https://doi.org/10.4321/s0212-71992002000400001","pdf_url":"https://scielo.isciii.es/pdf/ami/v19n4/editorial.pdf","source":{"id":"https://openalex.org/S89205634","display_name":"Anales de Medicina Interna","issn_l":"0212-7199","issn":["0212-7199"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":"https://openalex.org/P4310312277","host_organization_name":"SciELO","host_organization_lineage":["https://openalex.org/P4310312277"],"host_organization_lineage_names":["SciELO"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Anales de Medicina Interna","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://scielo.isciii.es/pdf/ami/v19n4/editorial.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5109327637","display_name":"J. de Portugal \u00c1lvarez","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2960094004","display_name":"Hospital General Universitario Gregorio Mara\u00f1\u00f3n","ror":"https://ror.org/0111es613","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I2960094004","https://openalex.org/I4210139293"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"J. de Portugal \u00c1lvarez","raw_affiliation_strings":["Hospital General Universitario Gregorio Mara\u00f1\u00f3n, Madrid"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital General Universitario Gregorio Mara\u00f1\u00f3n, Madrid","institution_ids":["https://openalex.org/I2960094004"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5109327637"],"corresponding_institution_ids":["https://openalex.org/I2960094004"],"apc_list":null,"apc_paid":null,"fwci":0.1622,"has_fulltext":true,"cited_by_count":4,"citation_normalized_percentile":{"value":0.54675784,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"19","issue":"4","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/T13481","display_name":"Neurological diseases and metabolism","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"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/hfe-gene","display_name":"HFE gene","score":0.906000018119812},{"id":"https://openalex.org/keywords/hfe-mutations","display_name":"HFE gene mutations","score":0.8270000219345093},{"id":"https://openalex.org/keywords/iron-metabolism","display_name":"iron metabolism","score":0.7229999899864197},{"id":"https://openalex.org/keywords/hereditary-hemochromatosis","display_name":"hereditary hemochromatosis","score":0.7649999856948853},{"id":"https://openalex.org/keywords/asymptomatic-carriers","display_name":"asymptomatic carriers","score":0.7680000066757202},{"id":"https://openalex.org/keywords/early-diagnosis","display_name":"early diagnosis","score":0.8939999938011169},{"id":"https://openalex.org/keywords/iron-overload","display_name":"iron overload","score":0.6349999904632568},{"id":"https://openalex.org/keywords/genetic-screening","display_name":"genetic screening","score":0.3059999942779541},{"id":"https://openalex.org/keywords/iron-chelation-therapy","display_name":"iron chelation therapy","score":0.6309999823570251},{"id":"https://openalex.org/keywords/iron-deficiency-anemia","display_name":"iron deficiency anemia","score":0.5059999823570251},{"id":"https://openalex.org/keywords/iron-deficiency","display_name":"iron deficiency","score":0.6919999718666077}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.815295934677124},{"id":"https://openalex.org/C114614502","wikidata":"https://www.wikidata.org/wiki/Q76592","display_name":"Combinatorics","level":1,"score":0.3659132719039917},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.06137567758560181}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.4321/s0212-71992002000400001","doi":"https://doi.org/10.4321/s0212-71992002000400001","is_oa":true,"landing_page_url":"https://doi.org/10.4321/s0212-71992002000400001","pdf_url":"https://scielo.isciii.es/pdf/ami/v19n4/editorial.pdf","source":{"id":"https://openalex.org/S89205634","display_name":"Anales de Medicina Interna","issn_l":"0212-7199","issn":["0212-7199"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":"https://openalex.org/P4310312277","host_organization_name":"SciELO","host_organization_lineage":["https://openalex.org/P4310312277"],"host_organization_lineage_names":["SciELO"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Anales de Medicina Interna","raw_type":"journal-article"},{"id":"pmh:oai:hispana.mcu.es:5992139","doi":null,"is_oa":false,"landing_page_url":"http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S0212-71992002000400001","pdf_url":null,"source":{"id":"https://openalex.org/S4377196108","display_name":"Hispana","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":"journal article"},{"id":"pmh:oai:scielo:S0212-71992002000400001","doi":null,"is_oa":false,"landing_page_url":"http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S0212-71992002000400001","pdf_url":null,"source":{"id":"https://openalex.org/S4306402135","display_name":"Scientific Electronic library online (Sciences Carlos III Health Institute)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801357902","host_organization_name":"Instituto de Salud Carlos III","host_organization_lineage":["https://openalex.org/I2801357902"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Anales de Medicina Interna v.19 n.4 2002","raw_type":"journal article"}],"best_oa_location":{"id":"doi:10.4321/s0212-71992002000400001","doi":"https://doi.org/10.4321/s0212-71992002000400001","is_oa":true,"landing_page_url":"https://doi.org/10.4321/s0212-71992002000400001","pdf_url":"https://scielo.isciii.es/pdf/ami/v19n4/editorial.pdf","source":{"id":"https://openalex.org/S89205634","display_name":"Anales de Medicina Interna","issn_l":"0212-7199","issn":["0212-7199"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":"https://openalex.org/P4310312277","host_organization_name":"SciELO","host_organization_lineage":["https://openalex.org/P4310312277"],"host_organization_lineage_names":["SciELO"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Anales de Medicina Interna","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2169512239.pdf","grobid_xml":"https://content.openalex.org/works/W2169512239.grobid-xml"},"referenced_works_count":3,"referenced_works":["https://openalex.org/W2038944724","https://openalex.org/W2091464815","https://openalex.org/W4301890325"],"related_works":["https://openalex.org/W7217109700","https://openalex.org/W7028859134","https://openalex.org/W7010216980","https://openalex.org/W2072031476","https://openalex.org/W2900605135","https://openalex.org/W4400072365","https://openalex.org/W4386950604","https://openalex.org/W1982629239","https://openalex.org/W2408158241","https://openalex.org/W1517055387"],"abstract_inverted_index":{"V.":[0,66],"Recklinghausen":[1,67],"propuso":[2],"el":[3,44,47,69,76,88,99,133,146,213,251,254,258,265,276,284,412,440,456,530,553,556,563,593,596],"t\u00e9rmino":[4,308],"de":[5,10,20,32,79,101,111,116,119,137,149,161,181,202,207,215,218,222,267,278,301,305,309,326,329,331,345,349,351,370,401,442,479,485,501,510,512,565,576],"hemocromatosis":[6,163,191,310,322],"para":[7,314,462],"sustituir":[8],"al":[9,15,41,74,292,318,585],"\"diabetes":[11],"bronceada\"":[12],"que":[13,43,49,56,61,89,164,178,187,230,242,366,445,494,505,554,589],"alud\u00eda":[14],"s\u00edndrome":[16,488],"descrito":[17],"un":[18,33,84,182,302,343,359,368,394,436,483],"cuarto":[19],"siglo":[21],"antes":[22],"por":[23,253,423,451],"Trousseau":[24],"(diabetes,":[25],"cirrosis,":[26],"hiperpigmentaci\u00f3n":[27],"cut\u00e1nea),":[28],"trasladando":[29],"la":[30,58,97,109,117,138,150,158,162,190,193,199,219,246,262,299,306,315,346,402,428,432,447,452,470,475,497,538,573,577,588],"denominaci\u00f3n":[31,110],"puro":[34],"sentido":[35,536],"semiol\u00f3gico":[36],"a":[37,96,114,128,338,342,431,474,492,517,525],"otro":[38],"m\u00e1s":[39,196,228],"fisiopatol\u00f3gico,":[40],"comprobar":[42,75],"hierro":[45,297,332,350,365,473,513,533,566],"es":[46,64,572],"pigmento":[48],"se":[50,174,179,188,243,356,404,425,477,546,590],"acumula":[51],"en":[52,132,198,257,261,275,378,388,406,411,415,427,455,468,529,537,552,555,560,567,587,595],"los":[53,231,568],"\u00f3rg":[54],"anos":[55],"expresan":[57],"enfermedad":[59,98,151,194,220,316],"y":[60,94,123,135,143,153,221,224,260,280,298,374,384,391,397,414,419],"su":[62,371],"procedencia":[63],"hem\u00e1tica.Tambi\u00e9n":[65],"intuy\u00f3":[68],"car\u00e1cter":[70,77,100],"hereditario":[71],"del":[72,104,106,209,234,286,294,296,362,364,449,472,520,532,541,599],"proceso":[73],"familiar":[78,93],"sus":[80],"casos,":[81],"pero":[82,386],"fue":[83],"m\u00e9dico":[85],"ingl\u00e9s,":[86],"Sheldon,":[87],"describe":[90],"esa":[91],"condici\u00f3n":[92,335],"adjudica":[95],"error":[102],"innato":[103],"metabolismo":[105,295,363,531],"hierro,":[107],"refrendando":[108],"hemocromatosis.Desde":[112],"entonces,":[113],"pesar,":[115],"adquisici\u00f3n":[118],"diversos":[120],"datos":[121],"fisiopatol\u00f3gicos":[122],"cl\u00ednicos,":[124],"hasta":[125],"1996,":[126],"asistimos":[127],"una":[129,155,459,549],"etapa":[130],"quiescente":[131],"conocimiento":[134,285,293],"manejo":[136],"hemocromatosis.En":[139],"este":[140,535],"a\u00f1o":[141],"Feder":[142],"cols.,":[144],"identifican":[145],"gen":[147,557],"responsable":[148],"(HFE)":[152],"eclosiona":[154],"nueva":[156],"era,":[157],"era":[159],"gen\u00e9tica,":[160,336],"ha":[165,175,211,249,288,547,591],"renovado":[166],"muchos":[167],"aspectos":[168],"relacionados":[169],"con":[170,245,264,270,408,439,487],"ella.En":[171],"primer":[172],"lugar":[173],"podido":[176],"evidenciar":[177],"trata":[180],"desorden":[183],"extraordinariamente":[184],"frecuente,":[185],"tanto":[186],"considera":[189],"como":[192,239,358],"gen\u00e9tica":[195,575],"frecuente":[197],"poblaci\u00f3n":[200],"humana":[201],"origen":[203],"caucasiano":[204],"(1).La":[205],"identificaci\u00f3n":[206],"mutaciones":[208,409,454,519],"HFE":[210,287,319,413,424,457,521],"permitido":[212],"descubrimiento":[214],"portadores":[216],"asintom\u00e1ticos":[217],"s\u00edntomas":[223],"signos":[225],"cl\u00ednicos":[226],"mucho":[227],"tempranos":[229],"cl\u00e1sicos":[232],"derivados":[233],"da\u00f1o":[235],"tisular":[236],"avanzado,":[237],"as\u00ed":[238],"otros":[240,327,389,526],"procesos":[241],"relacionan":[244],"hemocromatosis.Todo":[247],"ello":[248],"excitado":[250],"inter\u00e9s":[252],"diagn\u00f3stico":[255],"precoz":[256],"individuo":[259],"poblaci\u00f3n,":[263],"fin":[266],"actuar":[268],"terap\u00e9uticamente":[269],"fines":[271],"preventivos":[272],"e":[273],"influir":[274],"desarrollo":[277],"morbididad":[279],"mortalidad.Por":[281],"otra":[282],"parte,":[283],"abierto":[289],"nuevos":[290],"caminos":[291],"esperanza":[300],"control":[303,465],"g\u00e9nico":[304],"enfermedad.El":[307],"debe":[311],"ser":[312,515],"reservado":[313],"ligada":[317,584],"heredado":[320,361],"o":[321,341,514,524,543,580],"hereditaria":[323],"(HH),":[324],"distinta":[325],"des\u00f3rdenes":[328],"sobrecarga":[330,511],"sin":[333],"esta":[334],"secundarios":[337],"causas":[339],"conocidas":[340],"aumento":[344,369],"absorci\u00f3n":[347,372],"intestinal":[348,373],"mecanismo":[352],"no":[353,481,495,522],"aclarado.La":[354],"HH":[355,403,493,540,578],"define":[357],"trastorno":[360],"condiciona":[367],"posterior":[375],"dep\u00f3sito":[376],"progresivo":[377],"c\u00e9lulas":[379],"parenquimatosas":[380],"(principalmente":[381],"h\u00edgado,":[382],"p\u00e1ncreas":[383],"coraz\u00f3n":[385],"tambi\u00e9n":[387],"\u00f3rganos":[390],"tejidos)":[392],"condicionando":[393],"deterioro":[395],"estructural":[396],"funcional.La":[398],"forma":[399],"com\u00fan":[400],"produce":[405],"homocigotos":[407],"C282Y":[410],"heterocigosis":[416],"compuestas":[417],"(C282Y/H63D":[418],"otras).La":[420],"prote\u00edna":[421,460],"codificada":[422],"une":[426],"superficie":[429],"celular":[430],"B2":[433],"-microglobulina":[434],"constituyendo":[435],"complejo":[437],"estable":[438],"receptor":[441,450],"transferrina":[443],"(TFR)":[444],"disminuye":[446],"afinidad":[448],"transferrina.Las":[453],"codifican":[458],"inh\u00e1bil":[461],"ejercer":[463],"ese":[464],"negativo":[466],"y,":[467],"consecuencia,":[469],"incorporaci\u00f3n":[471],"c\u00e9lula":[476],"hace":[478],"manera":[480],"regulada.Existe":[482],"10-15%":[484],"casos":[486,502],"cl\u00ednico":[489],"fenot\u00edpicamente":[490],"similar":[491],"presentan":[496],"mutaci\u00f3n":[498,550],"C282Y.Puede":[499],"tratarse":[500],"err\u00f3neamente":[503],"diagnosticados":[504],"padecen":[506],"alguna":[507],"causa":[508],"secundaria":[509],"debidos":[516],"otras":[518],"identificadas":[523],"genes":[527],"implicados":[528],"(2).En":[534],"llamada":[539],"adulto":[542],"tipo":[544,581],"3,":[545],"identificado":[548,592],"Y250X":[551],"TFR-2,":[558],"localizado":[559],"7/22,":[561],"facilita":[562],"ac\u00famulo":[564],"hepatocitos":[569],"(3).M\u00e1s":[570],"problem\u00e1tica":[571],"interpretaci\u00f3n":[574],"juvenil":[579],"2,":[582],"tampoco":[583],"HFE,":[586],"locus":[594],"brazo":[597],"largo":[598],"9":[600]},"counts_by_year":[{"year":2023,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
