{"id":"https://openalex.org/W2920082779","doi":"https://doi.org/10.1186/s13023-019-1000-1","title":"Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series","display_name":"Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series","publication_year":2019,"publication_date":"2019-02-08","ids":{"openalex":"https://openalex.org/W2920082779","doi":"https://doi.org/10.1186/s13023-019-1000-1","mag":"2920082779","pmid":"https://pubmed.ncbi.nlm.nih.gov/30736835","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6368811"},"language":"en","primary_location":{"id":"doi:10.1186/s13023-019-1000-1","doi":"https://doi.org/10.1186/s13023-019-1000-1","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-019-1000-1","pdf_url":"https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-019-1000-1","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-019-1000-1","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5019223420","display_name":"M\u00e1rcia Waddington\u2010Cruz","orcid":"https://orcid.org/0000-0003-4853-2236","observed_orcids":["https://orcid.org/0000-0003-4853-2236"]},"institutions":[{"id":"https://openalex.org/I122140584","display_name":"Universidade Federal do Rio de Janeiro","ror":"https://ror.org/03490as77","country_code":"BR","type":"education","lineage":["https://openalex.org/I122140584"]},{"id":"https://openalex.org/I4210138087","display_name":"Hospital Universit\u00e1rio Clementino Fraga Filho","ror":"https://ror.org/04pznag94","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210138087"]}],"countries":["BR"],"is_corresponding":true,"raw_author_name":"M\u00e1rcia Waddington-Cruz","raw_affiliation_strings":["Federal University of Rio de Janeiro, Rio de Janeiro, Brazil. mwaddingtoncruz@gmail.com","Hospital Universit\u00e1rio Clementino Fraga Filho (HUCFF), Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil. mwaddingtoncruz@gmail.com","Federal University of Rio de Janeiro, Rio de Janeiro, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Federal University of Rio de Janeiro, Rio de Janeiro, Brazil. mwaddingtoncruz@gmail.com","institution_ids":["https://openalex.org/I122140584"]},{"raw_affiliation_string":"Hospital Universit\u00e1rio Clementino Fraga Filho (HUCFF), Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil. mwaddingtoncruz@gmail.com","institution_ids":["https://openalex.org/I122140584","https://openalex.org/I4210138087"]},{"raw_affiliation_string":"Federal University of Rio de Janeiro, Rio de Janeiro, Brazil","institution_ids":["https://openalex.org/I122140584"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015932441","display_name":"Hartmut Schmidt","orcid":"https://orcid.org/0000-0002-2402-7764","observed_orcids":["https://orcid.org/0000-0002-2402-7764"]},"institutions":[{"id":"https://openalex.org/I4210103666","display_name":"University Hospital M\u00fcnster","ror":"https://ror.org/01856cw59","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210103666"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Hartmut Schmidt","raw_affiliation_strings":["Muenster University Hospital, Muenster, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Muenster University Hospital, Muenster, Germany","institution_ids":["https://openalex.org/I4210103666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087184017","display_name":"Marc F Botteman","orcid":"https://orcid.org/0000-0003-2808-7163","observed_orcids":["https://orcid.org/0000-0003-2808-7163"]},"institutions":[{"id":"https://openalex.org/I4210134090","display_name":"Pharmerit (United States)","ror":"https://ror.org/040d4nb67","country_code":"US","type":"company","lineage":["https://openalex.org/I4210134090"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Marc F. Botteman","raw_affiliation_strings":["Pharmerit International, Bethesda, MD, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pharmerit International, Bethesda, MD, USA","institution_ids":["https://openalex.org/I4210134090"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065512022","display_name":"John A. Carter","orcid":"https://orcid.org/0000-0001-8539-5352","observed_orcids":["https://orcid.org/0000-0001-8539-5352"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"John A. Carter","raw_affiliation_strings":["BluePoint, LLC, Chicago, IL, USA"],"raw_orcid":"https://orcid.org/0000-0001-8539-5352","affiliations":[{"raw_affiliation_string":"BluePoint, LLC, Chicago, IL, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Michelle Stewart","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I180857899","display_name":"Pfizer (United States)","ror":"https://ror.org/01xdqrp08","country_code":"US","type":"company","lineage":["https://openalex.org/I180857899"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michelle Stewart","raw_affiliation_strings":["Pfizer Inc., Groton, CT, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pfizer Inc., Groton, CT, USA","institution_ids":["https://openalex.org/I180857899"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018708192","display_name":"Markay Hopps","orcid":"https://orcid.org/0000-0002-9262-8174","observed_orcids":["https://orcid.org/0000-0002-9262-8174"]},"institutions":[{"id":"https://openalex.org/I180857899","display_name":"Pfizer (United States)","ror":"https://ror.org/01xdqrp08","country_code":"US","type":"company","lineage":["https://openalex.org/I180857899"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Markay Hopps","raw_affiliation_strings":["Pfizer Inc., New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pfizer Inc., New York, NY, USA","institution_ids":["https://openalex.org/I180857899"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053837257","display_name":"Shari Fallet","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I180857899","display_name":"Pfizer (United States)","ror":"https://ror.org/01xdqrp08","country_code":"US","type":"company","lineage":["https://openalex.org/I180857899"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shari Fallet","raw_affiliation_strings":["Pfizer Inc., New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pfizer Inc., New York, NY, USA","institution_ids":["https://openalex.org/I180857899"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5080366556","display_name":"Leslie Amass","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I180857899","display_name":"Pfizer (United States)","ror":"https://ror.org/01xdqrp08","country_code":"US","type":"company","lineage":["https://openalex.org/I180857899"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Leslie Amass","raw_affiliation_strings":["Pfizer Inc., Collegeville, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pfizer Inc., Collegeville, PA, USA","institution_ids":["https://openalex.org/I180857899"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5019223420"],"corresponding_institution_ids":["https://openalex.org/I122140584","https://openalex.org/I4210138087"],"apc_list":{"value":2570,"currency":"USD","value_usd":2570},"apc_paid":{"value":2570,"currency":"USD","value_usd":2570},"fwci":3.3074,"has_fulltext":true,"cited_by_count":70,"citation_normalized_percentile":{"value":0.93784319,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":100},"biblio":{"volume":"14","issue":"1","first_page":"34","last_page":"34"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11305","display_name":"Amyloidosis: Diagnosis, Treatment, Outcomes","score":1.0,"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/T11305","display_name":"Amyloidosis: Diagnosis, Treatment, Outcomes","score":1.0,"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/T12331","display_name":"Hereditary Neurological Disorders","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"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/T11735","display_name":"Peripheral Neuropathies and Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"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/transthyretin-mutations","display_name":"transthyretin mutations","score":0.7739999890327454},{"id":"https://openalex.org/keywords/age-of-onset","display_name":"age of onset","score":0.8450000286102295},{"id":"https://openalex.org/keywords/age-at-diagnosis","display_name":"age at diagnosis","score":0.8840000033378601},{"id":"https://openalex.org/keywords/geographic-distribution","display_name":"geographic distribution","score":0.4909999966621399},{"id":"https://openalex.org/keywords/endemic-areas","display_name":"endemic areas","score":0.3659999966621399},{"id":"https://openalex.org/keywords/limb-involvement","display_name":"limb involvement","score":0.5540000200271606},{"id":"https://openalex.org/keywords/erectile-dysfunction","display_name":"erectile dysfunction","score":0.9269999861717224},{"id":"https://openalex.org/keywords/glaucoma","display_name":"glaucoma","score":0.8769999742507935},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7129999995231628}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7474917769432068},{"id":"https://openalex.org/C2910844529","wikidata":"https://www.wikidata.org/wiki/Q3338677","display_name":"Amyloid polyneuropathy","level":4,"score":0.6629976034164429},{"id":"https://openalex.org/C107130276","wikidata":"https://www.wikidata.org/wiki/Q133805","display_name":"Epidemiology","level":2,"score":0.6337569952011108},{"id":"https://openalex.org/C121157162","wikidata":"https://www.wikidata.org/wiki/Q419999","display_name":"Transthyretin","level":2,"score":0.5948110222816467},{"id":"https://openalex.org/C2775892965","wikidata":"https://www.wikidata.org/wiki/Q1502312","display_name":"Polyneuropathy","level":2,"score":0.4840366244316101},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.46955516934394836},{"id":"https://openalex.org/C68443243","wikidata":"https://www.wikidata.org/wiki/Q2786686","display_name":"Quartile","level":3,"score":0.4576091468334198},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4429800510406494},{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.36130690574645996},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.3308503031730652},{"id":"https://openalex.org/C44249647","wikidata":"https://www.wikidata.org/wiki/Q208498","display_name":"Confidence interval","level":2,"score":0.1437983512878418},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.11338892579078674},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011115","descriptor_name":"Polyneuropathies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011115","descriptor_name":"Polyneuropathies","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D011115","descriptor_name":"Polyneuropathies","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D028227","descriptor_name":"Amyloid Neuropathies, Familial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D028227","descriptor_name":"Amyloid Neuropathies, Familial","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D028227","descriptor_name":"Amyloid Neuropathies, Familial","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1186/s13023-019-1000-1","doi":"https://doi.org/10.1186/s13023-019-1000-1","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-019-1000-1","pdf_url":"https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-019-1000-1","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:5363594","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6368811","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:6368811","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6368811","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":"Orphanet J Rare Dis","raw_type":"Text"},{"id":"pmid:30736835","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30736835","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":"Orphanet journal of rare diseases","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:e31822a8e501426f9a2e61823bc91fb3","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/e31822a8e501426f9a2e61823bc91fb3","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":"Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/s13023-019-1000-1","doi":"https://doi.org/10.1186/s13023-019-1000-1","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-019-1000-1","pdf_url":"https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-019-1000-1","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320307765","display_name":"Pfizer","ror":"https://ror.org/01xdqrp08"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2920082779.pdf","grobid_xml":"https://content.openalex.org/works/W2920082779.grobid-xml"},"referenced_works_count":28,"referenced_works":["https://openalex.org/W592543166","https://openalex.org/W1856436812","https://openalex.org/W1899949139","https://openalex.org/W2007872832","https://openalex.org/W2020027521","https://openalex.org/W2049505629","https://openalex.org/W2057980795","https://openalex.org/W2061267336","https://openalex.org/W2075279644","https://openalex.org/W2102192680","https://openalex.org/W2114075554","https://openalex.org/W2115862827","https://openalex.org/W2122952491","https://openalex.org/W2131999691","https://openalex.org/W2139917830","https://openalex.org/W2142297067","https://openalex.org/W2156098321","https://openalex.org/W2158907165","https://openalex.org/W2162100200","https://openalex.org/W2171561339","https://openalex.org/W2212415077","https://openalex.org/W2264641932","https://openalex.org/W2317504286","https://openalex.org/W2405319848","https://openalex.org/W2607167688","https://openalex.org/W2774176529","https://openalex.org/W2774345751","https://openalex.org/W2888813299"],"related_works":["https://openalex.org/W7130511333","https://openalex.org/W4409870144","https://openalex.org/W4416020378","https://openalex.org/W3136704366","https://openalex.org/W4387764481","https://openalex.org/W6902525240","https://openalex.org/W3205229838","https://openalex.org/W3161318995","https://openalex.org/W7204845565","https://openalex.org/W4392843384"],"abstract_inverted_index":{"We":[0],"describe":[1],"542":[2],"cases":[3,27,170,196,219],"of":[4,15,25,132,143,153,162,177,185,191,207,236],"symptomatic":[5],"hereditary":[6],"transthyretin":[7],"amyloid":[8],"polyneuropathy":[9],"(ATTR-PN)":[10],"identified":[11],"through":[12],"a":[13,53,188,204,249],"review":[14],"the":[16,26,72,80,85,102,106,160,174,183,194,217,239,244],"literature":[17],"published":[18],"between":[19],"2005":[20],"and":[21,42,49,66,94,120,140,155,165,203,214,231,252],"2016.":[22],"Approximately":[23],"18%":[24],"were":[28,87,228,232],"from":[29],"countries":[30],"where":[31],"ATTR-PN":[32,247],"is":[33,171,248,257],"traditionally":[34],"considered":[35],"to":[36],"be":[37],"endemic":[38],"(i.e.,":[39,211],"Portugal,":[40],"Japan,":[41],"Sweden).":[43],"East":[44],"Asia":[45],"(Japan,":[46],"China,":[47],"Taiwan,":[48],"South":[50],"Korea)":[51],"contributed":[52],"sizeable":[54],"combined":[55],"proportion":[56],"(37.0%,":[57],"n":[58],"=":[59,64,69],"200)":[60],"with":[61,98,173],"Japan":[62],"(n":[63,68],"92)":[65],"China":[67],"71)":[70],"being":[71],"primary":[73],"contributors.":[74],"The":[75,151],"most":[76],"common":[77],"genotypes":[78,82,99],"among":[79,193],"65":[81],"represented":[83],"in":[84,216],"sample":[86],"Val30Met":[88],"(47.6%),":[89],"Ser77Tyr":[90,218],"(10%),":[91],"Ala97Ser":[92,195],"(6.5%),":[93],"Phe64Leu":[95,129],"(4.4%).":[96],"Cases":[97],"other":[100],"than":[101,256],"aforementioned":[103],"four":[104],"had":[105],"lowest":[107],"ages":[108],"at":[109,159,182],"onset":[110,133],"(mean":[111,122],"49.2":[112],"[standard":[113],"deviation":[114],"{SD}":[115],"21.0;":[116,125],"inter-quartile":[117],"range":[118],"{IQR}14.7])":[119],"diagnosis":[121,144,163,186],"53.4":[123],"[SD":[124],"IQR":[126,138,149],"14.7]).":[127],"Conversely,":[128],"mean":[130,141],"age":[131,142],"was":[134,145],"67.5":[135],"(SD":[136,147],"8.8;":[137,148],"5.2)":[139],"71.3":[146],"5.4).":[150],"prevalence":[152],"upper":[154],"lower":[156],"limb":[157],"involvement":[158],"time":[161,184],"(67":[164],"41%)":[166],"observed":[167],"across":[168,238],"all":[169,198,221],"consistent":[172],"typical":[175],"presentation":[176],"ATTR-PN.":[178],"Other":[179],"notable":[180],"findings":[181,242],"included":[187],"high":[189,205],"rate":[190,206],"impotence":[192],"versus":[197,220],"others":[199,222],"(67%":[200],"vs.":[201,224],"21%)":[202],"non-motor":[208],"visual":[209,212],"symptoms":[210],"opacities":[213],"glaucoma)":[215],"(93%":[223],"16%).":[225],"Though":[226],"comparisons":[227],"made":[229],"descriptively":[230],"hindered":[233],"by":[234],"inconsistency":[235],"reporting":[237],"cases,":[240],"these":[241],"support":[243],"notion":[245],"that":[246],"more":[250],"phenotypically":[251],"geographically":[253],"variable":[254],"disease":[255],"typically":[258],"considered.":[259]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":9},{"year":2024,"cited_by_count":9},{"year":2023,"cited_by_count":8},{"year":2022,"cited_by_count":15},{"year":2021,"cited_by_count":19},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2019-03-11T00:00:00"}
