{"id":"https://openalex.org/W2968422129","doi":"https://doi.org/10.11604/pamj.2019.33.293.19194","title":"Erdheim-chester disease revealed by diabetes insipidus","display_name":"Erdheim-chester disease revealed by diabetes insipidus","publication_year":2019,"publication_date":"2019-01-01","ids":{"openalex":"https://openalex.org/W2968422129","doi":"https://doi.org/10.11604/pamj.2019.33.293.19194","mag":"2968422129","pmid":"https://pubmed.ncbi.nlm.nih.gov/31692902","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6815502"},"language":"en","primary_location":{"id":"doi:10.11604/pamj.2019.33.293.19194","doi":"https://doi.org/10.11604/pamj.2019.33.293.19194","is_oa":true,"landing_page_url":"https://doi.org/10.11604/pamj.2019.33.293.19194","pdf_url":"https://www.panafrican-med-journal.com/content/DownloadFile.php?Type=Art&PdfTarget=33-293-19194","source":{"id":"https://openalex.org/S2755481371","display_name":"Pan African Medical Journal","issn_l":"1937-8688","issn":["1937-8688"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","jpps-2","medline","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310311037","host_organization_name":"African Field Epidemiology Network","host_organization_lineage":["https://openalex.org/P4310311037"],"host_organization_lineage_names":["African Field Epidemiology Network"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pan African Medical Journal","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.panafrican-med-journal.com/content/DownloadFile.php?Type=Art&PdfTarget=33-293-19194","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033249219","display_name":"Bilel Ben Amor","orcid":"https://orcid.org/0000-0003-1602-9935","observed_orcids":["https://orcid.org/0000-0003-1602-9935"]},"institutions":[{"id":"https://openalex.org/I4210167430","display_name":"Hospital Fatuma Bourguiba Monastir","ror":"https://ror.org/05t1yee64","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210167430"]}],"countries":["TN"],"is_corresponding":true,"raw_author_name":"Bilel Ben Amor","raw_affiliation_strings":["Fattouma Bourguiba University Hospital, Department of Endocrinology, Monastir, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fattouma Bourguiba University Hospital, Department of Endocrinology, Monastir, Tunisia","institution_ids":["https://openalex.org/I4210167430"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030181345","display_name":"Hanene Sayadi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210167430","display_name":"Hospital Fatuma Bourguiba Monastir","ror":"https://ror.org/05t1yee64","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210167430"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Hanene Sayadi","raw_affiliation_strings":["Fattouma Bourguiba University Hospital, Department of Endocrinology, Monastir, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fattouma Bourguiba University Hospital, Department of Endocrinology, Monastir, Tunisia","institution_ids":["https://openalex.org/I4210167430"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112911306","display_name":"Manel Jemel","orcid":"https://orcid.org/0000-0002-9050-7387","observed_orcids":["https://orcid.org/0000-0002-9050-7387"]},"institutions":[{"id":"https://openalex.org/I4210111346","display_name":"Institut National de Nutrition et de Technologie Alimentaire","ror":"https://ror.org/02t4zgr18","country_code":"TN","type":"government","lineage":["https://openalex.org/I4210111346"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Manel Jemel","raw_affiliation_strings":["National Institute of Nutrition, Department of Endocrinology Tunis Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institute of Nutrition, Department of Endocrinology Tunis Tunisia","institution_ids":["https://openalex.org/I4210111346"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113052938","display_name":"Houcem Mrabet","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210167430","display_name":"Hospital Fatuma Bourguiba Monastir","ror":"https://ror.org/05t1yee64","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210167430"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Houcem Mrabet","raw_affiliation_strings":["Fattouma Bourguiba University Hospital, Department of Endocrinology, Monastir, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fattouma Bourguiba University Hospital, Department of Endocrinology, Monastir, Tunisia","institution_ids":["https://openalex.org/I4210167430"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080232146","display_name":"Rym Hadhri","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210167430","display_name":"Hospital Fatuma Bourguiba Monastir","ror":"https://ror.org/05t1yee64","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210167430"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Rym Hadhri","raw_affiliation_strings":["Fattouma Bourguiba University Hospital, Department of Anatomopathology, Monastir, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fattouma Bourguiba University Hospital, Department of Anatomopathology, Monastir, Tunisia","institution_ids":["https://openalex.org/I4210167430"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014263594","display_name":"Tensim Slim","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210167430","display_name":"Hospital Fatuma Bourguiba Monastir","ror":"https://ror.org/05t1yee64","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210167430"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Tensim Slim","raw_affiliation_strings":["Fattouma Bourguiba University Hospital, Department of Endocrinology, Monastir, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fattouma Bourguiba University Hospital, Department of Endocrinology, Monastir, Tunisia","institution_ids":["https://openalex.org/I4210167430"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111608696","display_name":"R.I.M. Klii","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210167430","display_name":"Hospital Fatuma Bourguiba Monastir","ror":"https://ror.org/05t1yee64","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210167430"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Rym Klii","raw_affiliation_strings":["Fattouma Bourguiba University Hospital, Department of Endocrinology, Monastir, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fattouma Bourguiba University Hospital, Department of Endocrinology, Monastir, Tunisia","institution_ids":["https://openalex.org/I4210167430"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5075550449","display_name":"Ines Khochtali","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210167430","display_name":"Hospital Fatuma Bourguiba Monastir","ror":"https://ror.org/05t1yee64","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210167430"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Ines Khochtali","raw_affiliation_strings":["Fattouma Bourguiba University Hospital, Department of Endocrinology, Monastir, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fattouma Bourguiba University Hospital, Department of Endocrinology, Monastir, Tunisia","institution_ids":["https://openalex.org/I4210167430"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5033249219"],"corresponding_institution_ids":["https://openalex.org/I4210167430"],"apc_list":{"value":180,"currency":"USD","value_usd":180},"apc_paid":{"value":180,"currency":"USD","value_usd":180},"fwci":0.913,"has_fulltext":true,"cited_by_count":7,"citation_normalized_percentile":{"value":0.75778882,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"33","issue":null,"first_page":"293","last_page":"293"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11909","display_name":"Histiocytic Disorders and Treatments","score":1.0,"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/T11909","display_name":"Histiocytic Disorders and Treatments","score":1.0,"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/T11571","display_name":"Sarcoidosis and Beryllium Toxicity Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T10975","display_name":"Bone Tumor Diagnosis and Treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2732","display_name":"Orthopedics and Sports 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/erdheim-chester-disease","display_name":"Erdheim-Chester disease","score":0.9990000128746033},{"id":"https://openalex.org/keywords/non-langerhans-cell-histiocytosis","display_name":"non-Langerhans cell histiocytosis","score":0.9399999976158142},{"id":"https://openalex.org/keywords/diabetes-insipidus","display_name":"diabetes insipidus","score":0.9980000257492065},{"id":"https://openalex.org/keywords/cerebellar-ataxia","display_name":"cerebellar ataxia","score":0.996999979019165},{"id":"https://openalex.org/keywords/delayed-diagnosis","display_name":"delayed diagnosis","score":0.5929999947547913},{"id":"https://openalex.org/keywords/pegylated-interferon-alpha","display_name":"pegylated interferon-alpha","score":0.8790000081062317},{"id":"https://openalex.org/keywords/cardiac-involvement","display_name":"cardiac involvement","score":0.9490000009536743},{"id":"https://openalex.org/keywords/bone-involvement","display_name":"bone involvement","score":0.8880000114440918},{"id":"https://openalex.org/keywords/neurological-involvement","display_name":"neurological involvement","score":0.5260000228881836},{"id":"https://openalex.org/keywords/disease-progression","display_name":"disease progression","score":0.7080000042915344}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9713108539581299},{"id":"https://openalex.org/C2779945361","wikidata":"https://www.wikidata.org/wiki/Q1349259","display_name":"Erdheim\u2013Chester disease","level":4,"score":0.9142463207244873},{"id":"https://openalex.org/C2776958162","wikidata":"https://www.wikidata.org/wiki/Q220551","display_name":"Diabetes insipidus","level":2,"score":0.8960971832275391},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.6127170920372009},{"id":"https://openalex.org/C2780174970","wikidata":"https://www.wikidata.org/wiki/Q1411740","display_name":"Histiocytosis","level":3,"score":0.5968935489654541},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5878268480300903},{"id":"https://openalex.org/C2777910003","wikidata":"https://www.wikidata.org/wiki/Q1707292","display_name":"Asymptomatic","level":2,"score":0.5405150651931763},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.42762312293052673},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2998410761356354},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.16930538415908813}],"mesh":[{"descriptor_ui":"D002524","descriptor_name":"Cerebellar Ataxia","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D003919","descriptor_name":"Diabetes Insipidus","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011092","descriptor_name":"Polyethylene Glycols","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D011379","descriptor_name":"Prognosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014416","descriptor_name":"Tunisia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016898","descriptor_name":"Interferon-alpha","qualifier_ui":"Q000008","qualifier_name":"administration & dosage","is_major_topic":false},{"descriptor_ui":"D031249","descriptor_name":"Erdheim-Chester Disease","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D031249","descriptor_name":"Erdheim-Chester Disease","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D031249","descriptor_name":"Erdheim-Chester Disease","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D057210","descriptor_name":"Delayed Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.11604/pamj.2019.33.293.19194","doi":"https://doi.org/10.11604/pamj.2019.33.293.19194","is_oa":true,"landing_page_url":"https://doi.org/10.11604/pamj.2019.33.293.19194","pdf_url":"https://www.panafrican-med-journal.com/content/DownloadFile.php?Type=Art&PdfTarget=33-293-19194","source":{"id":"https://openalex.org/S2755481371","display_name":"Pan African Medical Journal","issn_l":"1937-8688","issn":["1937-8688"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","jpps-2","medline","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310311037","host_organization_name":"African Field Epidemiology Network","host_organization_lineage":["https://openalex.org/P4310311037"],"host_organization_lineage_names":["African Field Epidemiology Network"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pan African Medical Journal","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:5797792","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6815502","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:6815502","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6815502","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pan Afr Med J","raw_type":"Text"},{"id":"pmid:31692902","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31692902","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":"The Pan African medical journal","raw_type":"Case Reports"},{"id":"pmh:oai:doaj.org/article:39260486de6a4afbaef1b63e5144d830","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/39260486de6a4afbaef1b63e5144d830","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","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":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"The Pan African Medical Journal, Vol 33, Iss 293 (2019)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.11604/pamj.2019.33.293.19194","doi":"https://doi.org/10.11604/pamj.2019.33.293.19194","is_oa":true,"landing_page_url":"https://doi.org/10.11604/pamj.2019.33.293.19194","pdf_url":"https://www.panafrican-med-journal.com/content/DownloadFile.php?Type=Art&PdfTarget=33-293-19194","source":{"id":"https://openalex.org/S2755481371","display_name":"Pan African Medical Journal","issn_l":"1937-8688","issn":["1937-8688"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","jpps-2","medline","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310311037","host_organization_name":"African Field Epidemiology Network","host_organization_lineage":["https://openalex.org/P4310311037"],"host_organization_lineage_names":["African Field Epidemiology Network"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pan African Medical Journal","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2968422129.pdf","grobid_xml":"https://content.openalex.org/works/W2968422129.grobid-xml"},"referenced_works_count":13,"referenced_works":["https://openalex.org/W1988614640","https://openalex.org/W1990211334","https://openalex.org/W1990572783","https://openalex.org/W2011485662","https://openalex.org/W2022095137","https://openalex.org/W2029312365","https://openalex.org/W2108646411","https://openalex.org/W2126417952","https://openalex.org/W2165310267","https://openalex.org/W2201737114","https://openalex.org/W2310716991","https://openalex.org/W2480815496","https://openalex.org/W6648196239"],"related_works":["https://openalex.org/W2894752671","https://openalex.org/W3100192025","https://openalex.org/W2042472512","https://openalex.org/W2529223412","https://openalex.org/W2944375830","https://openalex.org/W1903778592","https://openalex.org/W207413104","https://openalex.org/W3201698914","https://openalex.org/W2474394516","https://openalex.org/W2029312365"],"abstract_inverted_index":{"Erdheim-Chester":[0],"disease":[1,91,111,147],"(ECD)":[2],"is":[3,24,32,38,46,140],"a":[4,41,63,82],"very":[5],"rare":[6],"and":[7,27,54,78,99,134,137],"aggressive":[8,70],"form":[9,71],"of":[10,17,20,52,62,72,85,90,121,125,143,146],"non-Langerhans":[11],"histiocytosis":[12],"with":[13,40,81],"unclear":[14],"pathogenesis.":[15],"Because":[16],"the":[18,33,60,122,144],"heterogeneity":[19],"clinical":[21],"presentation,":[22],"diagnosis":[23,83,133],"often":[25],"challenging":[26],"delayed.":[28],"Currently,":[29],"Interferon":[30,103],"alpha":[31,104],"first":[34],"line":[35],"treatment":[36],"that":[37,116],"associated":[39,96],"better":[42],"survival.":[43],"The":[44,88],"prognosis":[45],"relatively":[47],"poor,":[48],"especially":[49],"in":[50,127],"case":[51,61,114],"neurological":[53],"cardiovascular":[55],"involvement.":[56,101],"Herein,":[57],"we":[58],"report":[59],"64-year-old":[64],"Tunisian":[65],"female":[66],"patient":[67],"presenting":[68],"an":[69,131],"ECD":[73,126],"revealed":[74],"by":[75],"diabetes":[76],"insipidus":[77],"cerebellar":[79],"ataxia":[80],"delay":[84],"4":[86],"years.":[87],"assessment":[89],"extent":[92],"had":[93],"also":[94],"shown":[95],"asymptomatic":[97],"cardiac":[98],"bone":[100],"Pegylated":[102],"was":[105],"started":[106],"at":[107],"high":[108],"dose":[109],"allowing":[110],"stabilization.":[112],"This":[113],"illustrates":[115],"physicians":[117],"should":[118],"be":[119],"aware":[120],"heterogeneous":[123],"manifestations":[124],"order":[128],"to":[129],"insure":[130],"early":[132],"treatment.":[135],"Long-term":[136],"regular":[138],"follow-up":[139],"crucial":[141],"because":[142],"risk":[145],"progression.":[148]},"counts_by_year":[{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2019-08-22T00:00:00"}