{"id":"https://openalex.org/W2000673331","doi":"https://doi.org/10.1055/s-2008-1071272","title":"Sanfilippo Disease, Type C: Three Cases in the Same Family","display_name":"Sanfilippo Disease, Type C: Three Cases in the Same Family","publication_year":1989,"publication_date":"1989-05-01","ids":{"openalex":"https://openalex.org/W2000673331","doi":"https://doi.org/10.1055/s-2008-1071272","mag":"2000673331","pmid":"https://pubmed.ncbi.nlm.nih.gov/2500617"},"language":"en","primary_location":{"id":"doi:10.1055/s-2008-1071272","doi":"https://doi.org/10.1055/s-2008-1071272","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-2008-1071272","pdf_url":null,"source":{"id":"https://openalex.org/S44923075","display_name":"Neuropediatrics","issn_l":"0174-304X","issn":["0174-304X","1439-1899"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuropediatrics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5113875544","display_name":"Ilhem Turki","orcid":"https://orcid.org/0000-0003-2644-3128","observed_orcids":["https://orcid.org/0000-0003-2644-3128"]},"institutions":[{"id":"https://openalex.org/I4210162942","display_name":"Bic\u00eatre Hospital","ror":"https://ror.org/05c9p1x46","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210162942","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"I. Turki","raw_affiliation_strings":["D\u00e9partement de P\u00e9diatrie, H\u00f4pital de Bic\u00eatre, Le Kremlin-Bic\u00eatre, France","Service de Neurologie, D\u00e9partement de P\u00e9diatrie  Unit\u00ea 56, H\u00f4pital de Bic\u00eatre, Le Kremlin-Bic\u00eatre 94275 Cedex, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D\u00e9partement de P\u00e9diatrie, H\u00f4pital de Bic\u00eatre, Le Kremlin-Bic\u00eatre, France","institution_ids":["https://openalex.org/I4210162942"]},{"raw_affiliation_string":"Service de Neurologie, D\u00e9partement de P\u00e9diatrie  Unit\u00ea 56, H\u00f4pital de Bic\u00eatre, Le Kremlin-Bic\u00eatre 94275 Cedex, France","institution_ids":["https://openalex.org/I4210162942"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032709451","display_name":"Hans Kresse","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I22465464","display_name":"University of M\u00fcnster","ror":"https://ror.org/00pd74e08","country_code":"DE","type":"education","lineage":["https://openalex.org/I22465464"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"H. Kresse","raw_affiliation_strings":["Westf\u00e4lische Wilhelms-Universit\u00e4t, Institut f\u00fcr Physiologische Chemie und Pathobiochemie, D-4400 M\u00fcnster, Federal Republic of Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Westf\u00e4lische Wilhelms-Universit\u00e4t, Institut f\u00fcr Physiologische Chemie und Pathobiochemie, D-4400 M\u00fcnster, Federal Republic of Germany","institution_ids":["https://openalex.org/I22465464"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064859990","display_name":"Jacques M. Scotto","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210162942","display_name":"Bic\u00eatre Hospital","ror":"https://ror.org/05c9p1x46","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210162942","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"J. Scotto","raw_affiliation_strings":["INSERM Unit\u00e9 56, H\u00f4pital de Bic\u00eatre, Le Kremlin-Bic\u00eatre 94275 Cedex, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM Unit\u00e9 56, H\u00f4pital de Bic\u00eatre, Le Kremlin-Bic\u00eatre 94275 Cedex, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210162942"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5107840823","display_name":"Marc Tardieu","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Tardieu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.3311,"has_fulltext":false,"cited_by_count":10,"citation_normalized_percentile":{"value":0.58435208,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":95},"biblio":{"volume":"20","issue":"02","first_page":"90","last_page":"92"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9976000189781189,"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":0.9976000189781189,"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":0.0020000000949949026,"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":0.00019999999494757503,"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/mucopolysaccharidosis-type-iii","display_name":"mucopolysaccharidosis type III","score":0.890999972820282},{"id":"https://openalex.org/keywords/familial-inheritance","display_name":"familial inheritance","score":0.6970000267028809},{"id":"https://openalex.org/keywords/siblings","display_name":"siblings","score":0.9169999957084656},{"id":"https://openalex.org/keywords/dermal-fibroblasts","display_name":"dermal fibroblasts","score":0.8169999718666077},{"id":"https://openalex.org/keywords/liver-ultrastructure","display_name":"liver ultrastructure","score":0.7020000219345093},{"id":"https://openalex.org/keywords/phenotypic-expression","display_name":"phenotypic expression","score":0.5960000157356262},{"id":"https://openalex.org/keywords/children","display_name":"children","score":0.34599998593330383}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7375388145446777},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.7191488742828369},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.528055727481842}],"mesh":[{"descriptor_ui":"D000123","descriptor_name":"Acetyltransferases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","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":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009083","descriptor_name":"Mucopolysaccharidoses","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009084","descriptor_name":"Mucopolysaccharidosis III","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D009084","descriptor_name":"Mucopolysaccharidosis III","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009084","descriptor_name":"Mucopolysaccharidosis III","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1055/s-2008-1071272","doi":"https://doi.org/10.1055/s-2008-1071272","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-2008-1071272","pdf_url":null,"source":{"id":"https://openalex.org/S44923075","display_name":"Neuropediatrics","issn_l":"0174-304X","issn":["0174-304X","1439-1899"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuropediatrics","raw_type":"journal-article"},{"id":"pmid:2500617","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2500617","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":"Neuropediatrics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9476000070571899,"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":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1977619270","https://openalex.org/W4237516793","https://openalex.org/W2061654943","https://openalex.org/W2037528816","https://openalex.org/W2002168423","https://openalex.org/W1985921474","https://openalex.org/W1980993915","https://openalex.org/W2412534013","https://openalex.org/W3037732194","https://openalex.org/W2325872696"],"abstract_inverted_index":{"Six":[0],"siblings":[1],"were":[2,30],"followed,":[3],"three":[4,34],"of":[5,41,51,56],"them":[6],"suffering":[7],"from":[8],"a":[9,17],"Sanfilippo":[10,52],"disease,":[11],"type":[12],"C,":[13],"as":[14],"demonstrated":[15,59],"by":[16],"deficient":[18],"glucosamine":[19],"acetyltransferase":[20],"activity":[21],"in":[22,32],"cultured":[23],"skin":[24],"fibroblasts.":[25],"Clinical":[26],"and":[27,37],"radiological":[28],"findings":[29],"similar":[31],"the":[33,38,42,48,57],"affected":[35],"children":[36],"phenotypical":[39],"expression":[40],"disease":[43],"allowed":[44],"no":[45],"distinction":[46],"between":[47],"different":[49],"types":[50],"disease.":[53],"Ultrastructural":[54],"studies":[55],"liver":[58],"characteristic":[60],"intra-vacuolar":[61],"inclusions.":[62]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2016,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}