{"id":"https://openalex.org/W4283166156","doi":"https://doi.org/10.1186/s13023-022-02392-9","title":"Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry","display_name":"Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry","publication_year":2022,"publication_date":"2022-06-20","ids":{"openalex":"https://openalex.org/W4283166156","doi":"https://doi.org/10.1186/s13023-022-02392-9","pmid":"https://pubmed.ncbi.nlm.nih.gov/35725623","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9208147"},"language":"en","primary_location":{"id":"doi:10.1186/s13023-022-02392-9","doi":"https://doi.org/10.1186/s13023-022-02392-9","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-022-02392-9","pdf_url":"https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-022-02392-9","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":"review","is_traditional":true,"indexed_in":["crossref","datacite","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-022-02392-9","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5101975996","display_name":"Michael Beck","orcid":"https://orcid.org/0000-0001-7865-0124","observed_orcids":["https://orcid.org/0000-0001-7865-0124"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Michael Beck","raw_affiliation_strings":["SphinCS GmbH, Institute Clinical Science LSD, Hochheim, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"SphinCS GmbH, Institute Clinical Science LSD, Hochheim, Germany","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033041462","display_name":"Uma Ramaswami","orcid":"https://orcid.org/0000-0002-4703-7447","observed_orcids":["https://orcid.org/0000-0002-4703-7447"]},"institutions":[{"id":"https://openalex.org/I169248724","display_name":"Royal Free London NHS Foundation Trust","ror":"https://ror.org/04rtdp853","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I169248724"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Uma Ramaswami","raw_affiliation_strings":["Lysosomal Disorders Unit, Institute of Immunity and Transplantation, Royal Free London NHS Foundation Trust, University College London, London, UK. uma.ramaswami@nhs.net","Lysosomal Disorders Unit, Institute of Immunity and Transplantation, Royal Free London NHS Foundation Trust, University College London, London, UK"],"raw_orcid":"https://orcid.org/0000-0002-4703-7447","affiliations":[{"raw_affiliation_string":"Lysosomal Disorders Unit, Institute of Immunity and Transplantation, Royal Free London NHS Foundation Trust, University College London, London, UK. uma.ramaswami@nhs.net","institution_ids":["https://openalex.org/I169248724","https://openalex.org/I45129253"]},{"raw_affiliation_string":"Lysosomal Disorders Unit, Institute of Immunity and Transplantation, Royal Free London NHS Foundation Trust, University College London, London, UK","institution_ids":["https://openalex.org/I169248724","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015241274","display_name":"Elizabeth Hernberg\u2010St\u00e5hl","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Elizabeth Hernberg-St\u00e5hl","raw_affiliation_strings":["Late Phase Solutions Europe AB, T\u00e4by, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Late Phase Solutions Europe AB, T\u00e4by, Sweden","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016812185","display_name":"Derralynn A. Hughes","orcid":"https://orcid.org/0000-0003-4531-9173","observed_orcids":["https://orcid.org/0000-0003-4531-9173"]},"institutions":[{"id":"https://openalex.org/I169248724","display_name":"Royal Free London NHS Foundation Trust","ror":"https://ror.org/04rtdp853","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I169248724"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Derralynn A. Hughes","raw_affiliation_strings":["Lysosomal Disorders Unit, Institute of Immunity and Transplantation, Royal Free London NHS Foundation Trust, University College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Lysosomal Disorders Unit, Institute of Immunity and Transplantation, Royal Free London NHS Foundation Trust, University College London, London, UK","institution_ids":["https://openalex.org/I169248724","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079734090","display_name":"Christoph Kampmann","orcid":"https://orcid.org/0000-0002-2929-2970","observed_orcids":["https://orcid.org/0000-0002-2929-2970"]},"institutions":[{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Christoph Kampmann","raw_affiliation_strings":["Johannes Gutenberg School of Medicine, University of Mainz, Mainz, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Johannes Gutenberg School of Medicine, University of Mainz, Mainz, Germany","institution_ids":["https://openalex.org/I197323543"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024894157","display_name":"Atul B Mehta","orcid":"https://orcid.org/0000-0001-6474-9959","observed_orcids":["https://orcid.org/0000-0001-6474-9959","https://orcid.org/0000-0001-5423-2147","https://orcid.org/0000-0002-5490-6604"]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Atul B. Mehta","raw_affiliation_strings":["Department of Haematology, University College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Haematology, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058746392","display_name":"Kathy Nicholls","orcid":"https://orcid.org/0000-0002-1297-8722","observed_orcids":["https://orcid.org/0000-0002-1297-8722"]},"institutions":[{"id":"https://openalex.org/I1320473756","display_name":"The Royal Melbourne Hospital","ror":"https://ror.org/005bvs909","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1320473756","https://openalex.org/I4210158168"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Kathleen Nicholls","raw_affiliation_strings":["The Royal Melbourne Hospital, University of Melbourne, Parkville, VIC, Australia","The Royal Melbourne Hospital, University of Melbourne, Parkville, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Royal Melbourne Hospital, University of Melbourne, Parkville, VIC, Australia","institution_ids":["https://openalex.org/I1320473756","https://openalex.org/I165779595"]},{"raw_affiliation_string":"The Royal Melbourne Hospital, University of Melbourne, Parkville, Australia","institution_ids":["https://openalex.org/I1320473756","https://openalex.org/I165779595"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111192415","display_name":"Dau\u2010Ming Niu","orcid":"https://orcid.org/0000-0003-3962-1739","observed_orcids":["https://orcid.org/0000-0003-3962-1739"]},"institutions":[{"id":"https://openalex.org/I2803004286","display_name":"Taipei Veterans General Hospital","ror":"https://ror.org/03ymy8z76","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I2803004286"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Dau-Ming Niu","raw_affiliation_strings":["Taipei Veterans General Hospital, Taipei, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Taipei Veterans General Hospital, Taipei, Taiwan","institution_ids":["https://openalex.org/I2803004286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047501466","display_name":"Guillem Pintos\u2010Morell","orcid":"https://orcid.org/0000-0002-9347-2386","observed_orcids":["https://orcid.org/0000-0002-9347-2386"]},"institutions":[{"id":"https://openalex.org/I4210127641","display_name":"Vall d'Hebron Hospital Universitari","ror":"https://ror.org/03ba28x55","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I157913058","https://openalex.org/I4210127641","https://openalex.org/I4210153292"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Guillem Pintos-Morell","raw_affiliation_strings":["Reference Centre for Hereditary Metabolic Disorders (MetabERN), Vall d'Hebron University Hospital, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Reference Centre for Hereditary Metabolic Disorders (MetabERN), Vall d'Hebron University Hospital, Barcelona, Spain","institution_ids":["https://openalex.org/I4210127641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085071867","display_name":"Ricardo Claudio Reisin","orcid":"https://orcid.org/0000-0002-7278-4639","observed_orcids":["https://orcid.org/0000-0002-7278-4639"]},"institutions":[{"id":"https://openalex.org/I4210148193","display_name":"Hospital Brit\u00e1nico de Buenos Aires","ror":"https://ror.org/04djj4v98","country_code":"AR","type":"healthcare","lineage":["https://openalex.org/I4210148193"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Ricardo Reisin","raw_affiliation_strings":["Hospital Brit\u00e1nico de Buenos Aires, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Brit\u00e1nico de Buenos Aires, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I4210148193"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056078914","display_name":"Michael L. West","orcid":"https://orcid.org/0000-0003-4897-1378","observed_orcids":["https://orcid.org/0000-0003-4897-1378"]},"institutions":[{"id":"https://openalex.org/I129902397","display_name":"Dalhousie University","ror":"https://ror.org/01e6qks80","country_code":"CA","type":"education","lineage":["https://openalex.org/I129902397"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Michael L. West","raw_affiliation_strings":["Department of Medicine, Dalhousie University, Halifax, NS, Canada","Department of Medicine, Dalhousie University, Halifax, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Dalhousie University, Halifax, NS, Canada","institution_ids":["https://openalex.org/I129902397"]},{"raw_affiliation_string":"Department of Medicine, Dalhousie University, Halifax, Canada","institution_ids":["https://openalex.org/I129902397"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045548589","display_name":"J\u00f6rn Schenk","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210086742","display_name":"Takeda (Switzerland)","ror":"https://ror.org/002ysmy84","country_code":"CH","type":"company","lineage":["https://openalex.org/I4210086742","https://openalex.org/I44892455"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"J\u00f6rn Schenk","raw_affiliation_strings":["Takeda Pharmaceuticals International AG, Zurich, Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Takeda Pharmaceuticals International AG, Zurich, Switzerland","institution_ids":["https://openalex.org/I4210086742"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049472472","display_name":"Christina Anagnostopoulou","orcid":"https://orcid.org/0000-0003-0999-6484","observed_orcids":["https://orcid.org/0000-0003-0999-6484"]},"institutions":[{"id":"https://openalex.org/I4210086742","display_name":"Takeda (Switzerland)","ror":"https://ror.org/002ysmy84","country_code":"CH","type":"company","lineage":["https://openalex.org/I4210086742","https://openalex.org/I44892455"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Christina Anagnostopoulou","raw_affiliation_strings":["Takeda Pharmaceuticals International AG, Zurich, Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Takeda Pharmaceuticals International AG, Zurich, Switzerland","institution_ids":["https://openalex.org/I4210086742"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058187060","display_name":"Jaco Botha","orcid":"https://orcid.org/0000-0001-8974-2438","observed_orcids":["https://orcid.org/0000-0001-8974-2438"]},"institutions":[{"id":"https://openalex.org/I4210086742","display_name":"Takeda (Switzerland)","ror":"https://ror.org/002ysmy84","country_code":"CH","type":"company","lineage":["https://openalex.org/I4210086742","https://openalex.org/I44892455"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Jaco Botha","raw_affiliation_strings":["Takeda Pharmaceuticals International AG, Zurich, Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Takeda Pharmaceuticals International AG, Zurich, Switzerland","institution_ids":["https://openalex.org/I4210086742"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5089564343","display_name":"Roberto Giugliani","orcid":"https://orcid.org/0000-0001-9655-3686","observed_orcids":["https://orcid.org/0000-0001-9655-3686"]},"institutions":[{"id":"https://openalex.org/I130442723","display_name":"Universidade Federal do Rio Grande do Sul","ror":"https://ror.org/041yk2d64","country_code":"BR","type":"education","lineage":["https://openalex.org/I130442723"]},{"id":"https://openalex.org/I4210097146","display_name":"Hospital de Cl\u00ednicas de Porto Alegre","ror":"https://ror.org/010we4y38","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210097146"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Roberto Giugliani","raw_affiliation_strings":["Department of Genetics, UFRGS, Medical Genetics Service, HCPA, Porto Alegre, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, UFRGS, Medical Genetics Service, HCPA, Porto Alegre, Brazil","institution_ids":["https://openalex.org/I130442723","https://openalex.org/I4210097146"]}]}],"institutions":[],"countries_distinct_count":9,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5033041462"],"corresponding_institution_ids":["https://openalex.org/I169248724","https://openalex.org/I45129253"],"apc_list":{"value":2680,"currency":"USD","value_usd":2680},"apc_paid":{"value":2680,"currency":"USD","value_usd":2680},"fwci":3.3715,"has_fulltext":true,"cited_by_count":82,"citation_normalized_percentile":{"value":0.9626556,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":95,"max":100},"biblio":{"volume":"17","issue":"1","first_page":"238","last_page":"238"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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":1.0,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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":0.0,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0,"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/fabry-disease","display_name":"Fabry disease","score":0.9860000014305115},{"id":"https://openalex.org/keywords/fabry-outcome-survey","display_name":"Fabry Outcome Survey","score":0.996999979019165},{"id":"https://openalex.org/keywords/patient-registry","display_name":"patient registry","score":0.8820000290870667},{"id":"https://openalex.org/keywords/rare-diseases","display_name":"rare diseases","score":0.5839999914169312},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.7160000205039978},{"id":"https://openalex.org/keywords/agalsidase-alfa","display_name":"agalsidase alfa","score":0.9570000171661377},{"id":"https://openalex.org/keywords/enzyme-replacement-therapy","display_name":"enzyme replacement therapy","score":0.9980000257492065},{"id":"https://openalex.org/keywords/natural-history-of-disease","display_name":"natural history of disease","score":0.8529999852180481},{"id":"https://openalex.org/keywords/fabry-cardiomyopathy","display_name":"Fabry cardiomyopathy","score":0.8669999837875366},{"id":"https://openalex.org/keywords/renal-function-decline","display_name":"renal function decline","score":0.9629999995231628},{"id":"https://openalex.org/keywords/disease-severity-assessment","display_name":"disease severity assessment","score":0.9440000057220459},{"id":"https://openalex.org/keywords/real-world-evidence","display_name":"real-world evidence","score":0.8539999723434448},{"id":"https://openalex.org/keywords/long-term-follow-up","display_name":"long-term follow-up","score":0.621999979019165}],"concepts":[{"id":"https://openalex.org/C163276114","wikidata":"https://www.wikidata.org/wiki/Q484591","display_name":"Natural history","level":2,"score":0.7084152698516846},{"id":"https://openalex.org/C2777404818","wikidata":"https://www.wikidata.org/wiki/Q615645","display_name":"Fabry disease","level":3,"score":0.664659321308136},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6354988217353821},{"id":"https://openalex.org/C2779969927","wikidata":"https://www.wikidata.org/wiki/Q916766","display_name":"Enzyme replacement therapy","level":3,"score":0.6260422468185425},{"id":"https://openalex.org/C23131810","wikidata":"https://www.wikidata.org/wiki/Q818574","display_name":"Observational study","level":2,"score":0.4965837597846985},{"id":"https://openalex.org/C2778279407","wikidata":"https://www.wikidata.org/wiki/Q6980711","display_name":"Natural history study","level":3,"score":0.44689705967903137},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.42906349897384644},{"id":"https://openalex.org/C197934379","wikidata":"https://www.wikidata.org/wiki/Q2047938","display_name":"Adverse effect","level":2,"score":0.41881367564201355},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4107987582683563},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.3443237245082855},{"id":"https://openalex.org/C512399662","wikidata":"https://www.wikidata.org/wiki/Q3505712","display_name":"Family medicine","level":1,"score":0.3204548954963684},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.31861042976379395}],"mesh":[{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000519","descriptor_name":"alpha-Galactosidase","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D000795","descriptor_name":"Fabry Disease","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"D011994","descriptor_name":"Recombinant Proteins","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D012042","descriptor_name":"Registries","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015337","descriptor_name":"Multicenter Studies as Topic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016896","descriptor_name":"Treatment Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":true},{"descriptor_ui":"D056947","descriptor_name":"Enzyme Replacement Therapy","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":9,"locations":[{"id":"doi:10.1186/s13023-022-02392-9","doi":"https://doi.org/10.1186/s13023-022-02392-9","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-022-02392-9","pdf_url":"https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-022-02392-9","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":"pmid:35725623","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35725623","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:pubmedcentral.nih.gov:9208147","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC9208147/","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":"pmh:oai:doaj.org/article:2531f008988d4f348d67169f6b92893c","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/2531f008988d4f348d67169f6b92893c","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)","raw_type":"article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:10152387","doi":null,"is_oa":false,"landing_page_url":"https://discovery.ucl.ac.uk/id/eprint/10152387/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Orphanet Journal of Rare Diseases , 17 , Article 238. (2022)","raw_type":"Article"},{"id":"pmh:oai:jupiter.its.unimelb.edu.au:11343/316835","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/11343/316835","pdf_url":null,"source":{"id":"https://openalex.org/S4377196259","display_name":"Minerva Access (University of Melbourne)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I165779595","host_organization_name":"The University of Melbourne","host_organization_lineage":["https://openalex.org/I165779595"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Journal Article"},{"id":"pmh:oai:www.lume.ufrgs.br:10183/245631","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10183/245631","pdf_url":null,"source":{"id":"https://openalex.org/S4306402641","display_name":"LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Cient\u00edficas)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4383465926","host_organization_name":"LA Referencia","host_organization_lineage":["https://openalex.org/I4383465926"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"instacron:UFRGS","raw_type":"info:eu-repo/semantics/article"},{"id":"doi:10.60692/1f807-x6z10","doi":"https://doi.org/10.60692/1f807-x6z10","is_oa":true,"landing_page_url":"https://doi.org/10.60692/1f807-x6z10","pdf_url":null,"source":{"id":"https://openalex.org/S7407051682","display_name":"Greater South Information System","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":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article-journal"},{"id":"doi:10.60692/45mac-hnw28","doi":"https://doi.org/10.60692/45mac-hnw28","is_oa":true,"landing_page_url":"https://doi.org/10.60692/45mac-hnw28","pdf_url":null,"source":{"id":"https://openalex.org/S7407051682","display_name":"Greater South Information System","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":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article-journal"}],"best_oa_location":{"id":"doi:10.1186/s13023-022-02392-9","doi":"https://doi.org/10.1186/s13023-022-02392-9","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-022-02392-9","pdf_url":"https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-022-02392-9","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","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F1462049487","display_name":"Takeda Development Center Americas","ror":null},{"id":"https://openalex.org/F4320333965","display_name":"Takeda Pharmaceuticals International","ror":"https://ror.org/002ysmy84"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4283166156.pdf","grobid_xml":"https://content.openalex.org/works/W4283166156.grobid-xml"},"referenced_works_count":81,"referenced_works":["https://openalex.org/W170091617","https://openalex.org/W1528731826","https://openalex.org/W1553750778","https://openalex.org/W1587564125","https://openalex.org/W1790440725","https://openalex.org/W1854190073","https://openalex.org/W1929030819","https://openalex.org/W1982039218","https://openalex.org/W1989708725","https://openalex.org/W1990435413","https://openalex.org/W2007517041","https://openalex.org/W2015981234","https://openalex.org/W2017734769","https://openalex.org/W2021746707","https://openalex.org/W2026507072","https://openalex.org/W2030162832","https://openalex.org/W2034066850","https://openalex.org/W2034306630","https://openalex.org/W2036532718","https://openalex.org/W2039146635","https://openalex.org/W2039770589","https://openalex.org/W2042609729","https://openalex.org/W2043841576","https://openalex.org/W2047284364","https://openalex.org/W2056753312","https://openalex.org/W2065043634","https://openalex.org/W2066848973","https://openalex.org/W2069784854","https://openalex.org/W2071543365","https://openalex.org/W2072968544","https://openalex.org/W2073026144","https://openalex.org/W2082623163","https://openalex.org/W2086294918","https://openalex.org/W2088813643","https://openalex.org/W2093722439","https://openalex.org/W2099728000","https://openalex.org/W2102544626","https://openalex.org/W2102884553","https://openalex.org/W2107743168","https://openalex.org/W2111099907","https://openalex.org/W2118558603","https://openalex.org/W2120616395","https://openalex.org/W2133444266","https://openalex.org/W2134197747","https://openalex.org/W2150885355","https://openalex.org/W2153471521","https://openalex.org/W2160140241","https://openalex.org/W2160149198","https://openalex.org/W2161071079","https://openalex.org/W2163146708","https://openalex.org/W2163242168","https://openalex.org/W2165008949","https://openalex.org/W2165425660","https://openalex.org/W2170959517","https://openalex.org/W2264063527","https://openalex.org/W2364202825","https://openalex.org/W2420386625","https://openalex.org/W2469834306","https://openalex.org/W2514245972","https://openalex.org/W2549364891","https://openalex.org/W2555801439","https://openalex.org/W2571229911","https://openalex.org/W2576208849","https://openalex.org/W2587368604","https://openalex.org/W2604078450","https://openalex.org/W2609013783","https://openalex.org/W2808184073","https://openalex.org/W2903865057","https://openalex.org/W2913565058","https://openalex.org/W2920705617","https://openalex.org/W2953402849","https://openalex.org/W2981860386","https://openalex.org/W2982114696","https://openalex.org/W2991803055","https://openalex.org/W3028561505","https://openalex.org/W3033732098","https://openalex.org/W3083075215","https://openalex.org/W3100764063","https://openalex.org/W3195162626","https://openalex.org/W4200044565","https://openalex.org/W4220794741"],"related_works":["https://openalex.org/W4387941698","https://openalex.org/W2514245972","https://openalex.org/W4367396484","https://openalex.org/W2017734769","https://openalex.org/W3126395669","https://openalex.org/W2034306630","https://openalex.org/W7019206265","https://openalex.org/W2154062927","https://openalex.org/W4398233518","https://openalex.org/W7019254035"],"abstract_inverted_index":{"BACKGROUND:":[0],"Patient":[1],"registries":[2],"provide":[3],"long-term,":[4],"real-world":[5,313],"evidence":[6,314],"that":[7],"aids":[8],"the":[9,12,20,35,39,58,72,81,86,92,97,162,185,196,201,243,249,256,264,282,297,319,326],"understanding":[10,59,104,241,295,340],"of":[11,17,22,38,53,60,75,83,115,151,157,167,187,198,212,229,242,246,252,266,285,296,301,333,341],"natural":[13,244],"history":[14,82,245],"and":[15,19,69,85,88,94,124,165,175,180,189,200,227,248,255,258,273,290,299,335],"progression":[16,197],"disease,":[18],"effects":[21,177],"treatment":[23,191],"on":[24,147,178,195,210],"large":[25],"patient":[26,125,331],"populations":[27,251],"with":[28,120,172,192,207,216],"rare":[29,306,311,343],"diseases.":[30],"The":[31,50],"year":[32],"2021":[33],"marks":[34],"20th":[36],"anniversary":[37],"Fabry":[40,61],"Outcome":[41],"Survey":[42],"(FOS),":[43],"an":[44,64],"international,":[45],"multicenter,":[46],"observational":[47],"registry":[48],"(NCT03289065).":[49],"primary":[51],"aims":[52],"FOS":[54,84,99,107,139,158,213,234,268,317],"are":[55],"to":[56,70,154,223,281,337],"broaden":[57],"disease":[62,277,312],"(FD),":[63],"X-linked":[65],"lysosomal":[66],"storage":[67],"disorder,":[68],"improve":[71,224],"clinical":[73],"management":[74,332],"affected":[76],"patients.":[77,233],"Here,":[78],"we":[79,95],"review":[80],"analyses":[87,211,236],"publications":[89],"disseminated":[90],"from":[91,131,138],"registry,":[93],"discuss":[96],"contributions":[98],"studies":[100],"have":[101,128,140,160,237,259],"made":[102],"in":[103,110,143,203,288,305,309],"FD.":[105,155,208,267],"RESULTS:":[106],"was":[108],"initiated":[109],"April":[111],"2001":[112],"and,":[113],"as":[114,182,184],"January":[116],"2021,":[117],"4484":[118],"patients":[119],"a":[121,148,239],"confirmed":[122],"diagnosis":[123],"informed":[126],"consent":[127],"been":[129,141,221],"enrolled":[130],"144":[132],"centers":[133],"across":[134],"26":[135],"countries.":[136],"Data":[137],"published":[142],"nearly":[144],"60":[145],"manuscripts":[146],"wide":[149],"variety":[150],"topics":[152],"relevant":[153],"Analyses":[156],"data":[159,235,303],"investigated":[161],"long-term":[163,302],"effectiveness":[164],"safety":[166],"enzyme":[168],"replacement":[169],"therapy":[170],"(ERT)":[171],"agalsidase":[173,193,217],"alfa":[174,194,218],"its":[176],"morbidity":[179],"mortality,":[181],"well":[183],"benefits":[186],"prompt":[188],"early":[190],"cardiomyopathy":[199],"decline":[202],"renal":[204],"function":[205],"associated":[206],"Based":[209],"data,":[214],"ERT":[215],"has":[219,269,291,323],"also":[220,270],"shown":[222],"additional":[225],"signs":[226],"symptoms":[228],"FD":[230,247,289,334],"experienced":[231],"by":[232],"provided":[238,260,271],"better":[240],"specific":[250],"women,":[253],"children,":[254],"elderly,":[257],"practical":[261],"tools":[262],"for":[263,275],"study":[265],"methodology":[272],"criteria":[274],"assessing":[276],"severity":[278],"which":[279],"contributed":[280],"continuous":[283],"development":[284],"medical":[286],"practice":[287],"largely":[292],"improved":[293,330],"our":[294,339],"challenges":[298],"needs":[300],"collection":[304],"diseases,":[307],"aiding":[308],"future":[310],"studies.":[315],"CONCLUSION:":[316],"over":[318],"last":[320],"20":[321],"years":[322],"substantially":[324],"increased":[325],"scientific":[327],"knowledge":[328],"around":[329],"continues":[336],"expand":[338],"this":[342],"disease.":[344]},"counts_by_year":[{"year":2026,"cited_by_count":16},{"year":2025,"cited_by_count":25},{"year":2024,"cited_by_count":30},{"year":2023,"cited_by_count":8},{"year":2022,"cited_by_count":3}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2022-06-21T00:00:00"}