{"id":"https://openalex.org/W2063668845","doi":"https://doi.org/10.1203/00006450-198302000-00003","title":"Various Sulfatase Activities in Leukocytes and Cultured Skin Fibroblasts from Heterozygotes for the Multiple Sulfatase Deficiency (Mukosulfatidosis)","display_name":"Various Sulfatase Activities in Leukocytes and Cultured Skin Fibroblasts from Heterozygotes for the Multiple Sulfatase Deficiency (Mukosulfatidosis)","publication_year":1983,"publication_date":"1983-02-01","ids":{"openalex":"https://openalex.org/W2063668845","doi":"https://doi.org/10.1203/00006450-198302000-00003","mag":"2063668845","pmid":"https://pubmed.ncbi.nlm.nih.gov/6572356"},"language":"en","primary_location":{"id":"doi:10.1203/00006450-198302000-00003","doi":"https://doi.org/10.1203/00006450-198302000-00003","is_oa":false,"landing_page_url":"https://doi.org/10.1203/00006450-198302000-00003","pdf_url":null,"source":{"id":"https://openalex.org/S167664057","display_name":"Pediatric Research","issn_l":"0031-3998","issn":["0031-3998","1530-0447"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Research","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5109869484","display_name":"Yoshikatsu Eto","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I115498069","display_name":"Jikei University School of Medicine","ror":"https://ror.org/039ygjf22","country_code":"JP","type":"education","lineage":["https://openalex.org/I115498069"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoshikatsu Eto","raw_affiliation_strings":["Department of Pediatrics, Tokyo Jikei University School of Medicine, Minato-ku, Tokyo, Japan","Department of Pediatrics, Tokyo Jikei University School of Medicine, Minato-ku, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Tokyo Jikei University School of Medicine, Minato-ku, Tokyo, Japan","institution_ids":["https://openalex.org/I115498069"]},{"raw_affiliation_string":"Department of Pediatrics, Tokyo Jikei University School of Medicine, Minato-ku, Japan","institution_ids":["https://openalex.org/I115498069"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103728779","display_name":"Takahiro Tahara","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I115498069","display_name":"Jikei University School of Medicine","ror":"https://ror.org/039ygjf22","country_code":"JP","type":"education","lineage":["https://openalex.org/I115498069"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takahiro Tahara","raw_affiliation_strings":["Department of Pediatrics, Tokyo Jikei University School of Medicine, Minato-ku, Tokyo, Japan","Department of Pediatrics, Tokyo Jikei University School of Medicine, Minato-ku, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Tokyo Jikei University School of Medicine, Minato-ku, Tokyo, Japan","institution_ids":["https://openalex.org/I115498069"]},{"raw_affiliation_string":"Department of Pediatrics, Tokyo Jikei University School of Medicine, Minato-ku, Japan","institution_ids":["https://openalex.org/I115498069"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032707191","display_name":"T. Tokoro","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I115498069","display_name":"Jikei University School of Medicine","ror":"https://ror.org/039ygjf22","country_code":"JP","type":"education","lineage":["https://openalex.org/I115498069"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Toshiharu Tokoro","raw_affiliation_strings":["Department of Pediatrics, Tokyo Jikei University School of Medicine, Minato-ku, Tokyo, Japan","Department of Pediatrics, Tokyo Jikei University School of Medicine, Minato-ku, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Tokyo Jikei University School of Medicine, Minato-ku, Tokyo, Japan","institution_ids":["https://openalex.org/I115498069"]},{"raw_affiliation_string":"Department of Pediatrics, Tokyo Jikei University School of Medicine, Minato-ku, Japan","institution_ids":["https://openalex.org/I115498069"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5113736470","display_name":"Kihei Maekawa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I115498069","display_name":"Jikei University School of Medicine","ror":"https://ror.org/039ygjf22","country_code":"JP","type":"education","lineage":["https://openalex.org/I115498069"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kihei Maekawa","raw_affiliation_strings":["Department of Pediatrics, Tokyo Jikei University School of Medicine, Minato-ku, Tokyo, Japan","Department of Pediatrics, Tokyo Jikei University School of Medicine, Minato-ku, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Tokyo Jikei University School of Medicine, Minato-ku, Tokyo, Japan","institution_ids":["https://openalex.org/I115498069"]},{"raw_affiliation_string":"Department of Pediatrics, Tokyo Jikei University School of Medicine, Minato-ku, Japan","institution_ids":["https://openalex.org/I115498069"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I115498069"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":null,"fwci":1.235,"has_fulltext":true,"cited_by_count":8,"citation_normalized_percentile":{"value":0.79944343,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"17","issue":"2","first_page":"97","last_page":"100"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0005000000237487257,"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/multiple-sulfatase-deficiency","display_name":"multiple sulfatase deficiency","score":0.9950000047683716},{"id":"https://openalex.org/keywords/mucopolysaccharidosis-type-iv","display_name":"mucopolysaccharidosis type IV","score":0.7639999985694885},{"id":"https://openalex.org/keywords/heterozygotes","display_name":"heterozygotes","score":0.9210000038146973},{"id":"https://openalex.org/keywords/sulfatase-activity","display_name":"sulfatase activity","score":0.8700000047683716},{"id":"https://openalex.org/keywords/arylsulfatase-a","display_name":"arylsulfatase A","score":0.9539999961853027},{"id":"https://openalex.org/keywords/arylsulfatase-c","display_name":"arylsulfatase C","score":0.9919999837875366},{"id":"https://openalex.org/keywords/leukocytes","display_name":"leukocytes","score":0.9800000190734863},{"id":"https://openalex.org/keywords/dermal-fibroblasts","display_name":"dermal fibroblasts","score":0.9580000042915344},{"id":"https://openalex.org/keywords/enzyme-activity","display_name":"enzyme activity","score":0.45500001311302185},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.8960000276565552}],"concepts":[{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.9208654165267944},{"id":"https://openalex.org/C2780871851","wikidata":"https://www.wikidata.org/wiki/Q7636184","display_name":"Sulfatase","level":3,"score":0.8909944295883179},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.5459761023521423},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.48062318563461304},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4119379222393036},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3775010108947754},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.370392382144928},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3497812747955322},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3342341184616089},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2487902045249939},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.24833476543426514},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.24356123805046082},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1867256760597229},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.11204767227172852}],"mesh":[{"descriptor_ui":"D001192","descriptor_name":"Arylsulfatases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","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":"D006867","descriptor_name":"Hydrolases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D007962","descriptor_name":"Leukocytes","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D008661","descriptor_name":"Metabolism, Inborn Errors","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D008661","descriptor_name":"Metabolism, Inborn Errors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012867","descriptor_name":"Skin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013429","descriptor_name":"Sulfatases","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D013429","descriptor_name":"Sulfatases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D043266","descriptor_name":"Steryl-Sulfatase","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1203/00006450-198302000-00003","doi":"https://doi.org/10.1203/00006450-198302000-00003","is_oa":false,"landing_page_url":"https://doi.org/10.1203/00006450-198302000-00003","pdf_url":null,"source":{"id":"https://openalex.org/S167664057","display_name":"Pediatric Research","issn_l":"0031-3998","issn":["0031-3998","1530-0447"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Research","raw_type":"journal-article"},{"id":"pmid:6572356","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/6572356","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric research","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":6,"referenced_works":["https://openalex.org/W1625239573","https://openalex.org/W1775749144","https://openalex.org/W2055122580","https://openalex.org/W2064121481","https://openalex.org/W2068367183","https://openalex.org/W2093972537"],"related_works":["https://openalex.org/W2161259125","https://openalex.org/W2094343283","https://openalex.org/W2069281813","https://openalex.org/W2078542602","https://openalex.org/W2078082152","https://openalex.org/W2093972537","https://openalex.org/W2035426998","https://openalex.org/W2128050000","https://openalex.org/W2038118715","https://openalex.org/W2212427997"],"abstract_inverted_index":null,"counts_by_year":[{"year":2018,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
