{"id":"https://openalex.org/W2018414522","doi":"https://doi.org/10.1097/01.pec.0000117929.65522.d7","title":"Positive Heterophile Antibody Test and Massive Splenomegaly in an Adolescent With Previously Unsuspected Gaucher Disease","display_name":"Positive Heterophile Antibody Test and Massive Splenomegaly in an Adolescent With Previously Unsuspected Gaucher Disease","publication_year":2004,"publication_date":"2004-03-01","ids":{"openalex":"https://openalex.org/W2018414522","doi":"https://doi.org/10.1097/01.pec.0000117929.65522.d7","mag":"2018414522","pmid":"https://pubmed.ncbi.nlm.nih.gov/15094578"},"language":"en","primary_location":{"id":"doi:10.1097/01.pec.0000117929.65522.d7","doi":"https://doi.org/10.1097/01.pec.0000117929.65522.d7","is_oa":false,"landing_page_url":"https://doi.org/10.1097/01.pec.0000117929.65522.d7","pdf_url":null,"source":{"id":"https://openalex.org/S4210190147","display_name":"Pediatric Emergency Care","issn_l":"0749-5161","issn":["0749-5161","1535-1815"],"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-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Emergency Care","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/A5090617792","display_name":"Stella T. Chou","orcid":"https://orcid.org/0000-0003-4333-6965","observed_orcids":["https://orcid.org/0000-0003-4333-6965"]},"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":"Stella T. Chou","raw_affiliation_strings":["*Division of General Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA; \u2020Division of Infectious Diseases, The Children's Hospital of Philadelphia, Philadelphia, PA; \u2021Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA","Division of General Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"*Division of General Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA; \u2020Division of Infectious Diseases, The Children's Hospital of Philadelphia, Philadelphia, PA; \u2021Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Division of General Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027203858","display_name":"Samir S. Shah","orcid":"https://orcid.org/0000-0001-7902-7000","observed_orcids":["https://orcid.org/0000-0001-7902-7000"]},"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":"Samir S. Shah","raw_affiliation_strings":["Division of General Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA","Division of Infectious Diseases, The Children's Hospital of Philadelphia, Philadelphia, PA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of General Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Division of Infectious Diseases, The Children's Hospital of Philadelphia, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054935165","display_name":"Richard L. Hodinka","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":false,"raw_author_name":"Richard L. Hodinka","raw_affiliation_strings":["Division of Infectious Diseases, The Children's Hospital of Philadelphia, Philadelphia, PA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Infectious Diseases, The Children's Hospital of Philadelphia, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5101889067","display_name":"Alan R. Cohen","orcid":"https://orcid.org/0000-0002-9506-6541","observed_orcids":["https://orcid.org/0000-0002-9506-6541"]},"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":false,"raw_author_name":"Alan R. Cohen","raw_affiliation_strings":["Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5027203858","https://openalex.org/A5090617792"],"corresponding_institution_ids":["https://openalex.org/I1335321130"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.1606624,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"20","issue":"3","first_page":"181","last_page":"184"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0017999999690800905,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.00019999999494757503,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/gaucher-disease-type-1","display_name":"Gaucher disease type 1","score":0.9399999976158142},{"id":"https://openalex.org/keywords/massive-splenomegaly","display_name":"massive splenomegaly","score":0.8569999933242798},{"id":"https://openalex.org/keywords/infectious-mononucleosis","display_name":"infectious mononucleosis","score":0.9169999957084656},{"id":"https://openalex.org/keywords/epstein-barr-virus","display_name":"Epstein-Barr virus","score":0.9860000014305115},{"id":"https://openalex.org/keywords/diagnostic-confusion","display_name":"diagnostic confusion","score":0.4880000054836273},{"id":"https://openalex.org/keywords/adolescents","display_name":"adolescents","score":0.4869999885559082},{"id":"https://openalex.org/keywords/splenomegaly","display_name":"splenomegaly","score":0.7990000247955322}],"concepts":[{"id":"https://openalex.org/C2776129502","wikidata":"https://www.wikidata.org/wiki/Q207367","display_name":"Mononucleosis","level":3,"score":0.96497642993927},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9164735078811646},{"id":"https://openalex.org/C2777774473","wikidata":"https://www.wikidata.org/wiki/Q5747444","display_name":"Heterophile","level":3,"score":0.8373515605926514},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6299782395362854},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.5640757083892822},{"id":"https://openalex.org/C159654299","wikidata":"https://www.wikidata.org/wiki/Q79460","display_name":"Antibody","level":2,"score":0.5625497102737427},{"id":"https://openalex.org/C2776723260","wikidata":"https://www.wikidata.org/wiki/Q861645","display_name":"Gaucher's disease","level":3,"score":0.5359087586402893},{"id":"https://openalex.org/C2778047097","wikidata":"https://www.wikidata.org/wiki/Q3031","display_name":"Girl","level":2,"score":0.4555458128452301},{"id":"https://openalex.org/C2522874641","wikidata":"https://www.wikidata.org/wiki/Q808","display_name":"Virus","level":2,"score":0.3446650505065918},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3432452082633972},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.22008466720581055},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.0},{"id":"https://openalex.org/C138496976","wikidata":"https://www.wikidata.org/wiki/Q175002","display_name":"Developmental psychology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000910","descriptor_name":"Antibodies, Heterophile","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D000914","descriptor_name":"Antibodies, Viral","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D000918","descriptor_name":"Antibody Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001856","descriptor_name":"Bone Marrow Examination","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003951","descriptor_name":"Diagnostic Errors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004854","descriptor_name":"Herpesvirus 4, Human","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":true},{"descriptor_ui":"D005189","descriptor_name":"False Positive Reactions","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005221","descriptor_name":"Fatigue","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005334","descriptor_name":"Fever","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D005776","descriptor_name":"Gaucher Disease","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D005776","descriptor_name":"Gaucher Disease","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D005776","descriptor_name":"Gaucher Disease","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D005962","descriptor_name":"Glucosylceramidase","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D005962","descriptor_name":"Glucosylceramidase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D006529","descriptor_name":"Hepatomegaly","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007244","descriptor_name":"Infectious Mononucleosis","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D007244","descriptor_name":"Infectious Mononucleosis","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D010612","descriptor_name":"Pharyngitis","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D013156","descriptor_name":"Splenectomy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013163","descriptor_name":"Splenomegaly","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D013163","descriptor_name":"Splenomegaly","qualifier_ui":"Q000601","qualifier_name":"surgery","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1097/01.pec.0000117929.65522.d7","doi":"https://doi.org/10.1097/01.pec.0000117929.65522.d7","is_oa":false,"landing_page_url":"https://doi.org/10.1097/01.pec.0000117929.65522.d7","pdf_url":null,"source":{"id":"https://openalex.org/S4210190147","display_name":"Pediatric Emergency Care","issn_l":"0749-5161","issn":["0749-5161","1535-1815"],"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-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Emergency Care","raw_type":"journal-article"},{"id":"pmid:15094578","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15094578","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":"Pediatric emergency care","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9907000064849854}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8199999928474426}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":17,"referenced_works":["https://openalex.org/W1416454934","https://openalex.org/W1542335975","https://openalex.org/W1974211186","https://openalex.org/W1979844690","https://openalex.org/W2045501106","https://openalex.org/W2052788412","https://openalex.org/W2055113091","https://openalex.org/W2060497053","https://openalex.org/W2079422307","https://openalex.org/W2086077821","https://openalex.org/W2097083516","https://openalex.org/W2143603096","https://openalex.org/W2170833244","https://openalex.org/W2229403842","https://openalex.org/W2424686285","https://openalex.org/W4211184522","https://openalex.org/W4323254147"],"related_works":["https://openalex.org/W4323254147","https://openalex.org/W2424686285","https://openalex.org/W4413774985","https://openalex.org/W4372404588","https://openalex.org/W2071926921","https://openalex.org/W7220492817","https://openalex.org/W4400918948","https://openalex.org/W4313406211","https://openalex.org/W3008983660","https://openalex.org/W1996230687"],"abstract_inverted_index":{"Mild":[0],"splenomegaly":[1],"is":[2,14],"common":[3],"in":[4],"patients":[5],"with":[6,29,38],"Epstein-Barr":[7],"virus-associated":[8],"infectious":[9,59],"mononucleosis.":[10,60],"Massive":[11],"splenomegaly,":[12],"however,":[13],"rare":[15],"and":[16],"requires":[17],"further":[18],"evaluation":[19],"to":[20],"exclude":[21],"other":[22],"causes.":[23],"We":[24],"report":[25],"an":[26],"adolescent":[27],"girl":[28],"previously":[30],"undiagnosed":[31],"type":[32],"1":[33],"Gaucher":[34],"disease":[35],"who":[36],"presented":[37],"massive":[39],"splenomegaly.":[40],"The":[41],"diagnosis":[42],"of":[43,52],"her":[44],"underlying":[45],"condition":[46],"was":[47],"hampered":[48],"by":[49],"the":[50],"presence":[51],"a":[53],"positive":[54],"heterophile":[55],"antibody":[56],"test":[57],"for":[58]},"counts_by_year":[{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}