{"id":"https://openalex.org/W1993230388","doi":"https://doi.org/10.1542/peds.2005-0867","title":"Successful Hematopoietic Stem Cell Transplantation for Niemann-Pick Disease Type B","display_name":"Successful Hematopoietic Stem Cell Transplantation for Niemann-Pick Disease Type B","publication_year":2005,"publication_date":"2005-09-30","ids":{"openalex":"https://openalex.org/W1993230388","doi":"https://doi.org/10.1542/peds.2005-0867","mag":"1993230388","pmid":"https://pubmed.ncbi.nlm.nih.gov/16199719"},"language":"en","primary_location":{"id":"doi:10.1542/peds.2005-0867","doi":"https://doi.org/10.1542/peds.2005-0867","is_oa":false,"landing_page_url":"https://doi.org/10.1542/peds.2005-0867","pdf_url":null,"source":{"id":"https://openalex.org/S77494981","display_name":"PEDIATRICS","issn_l":"0031-4005","issn":["0031-4005","1098-4275"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315734","host_organization_name":"American Academy of Pediatrics","host_organization_lineage":["https://openalex.org/P4310315734"],"host_organization_lineage_names":["American Academy of Pediatrics"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatrics","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/A5067009658","display_name":"Ami J. Shah","orcid":"https://orcid.org/0000-0001-5700-6188","observed_orcids":["https://orcid.org/0000-0001-5700-6188"]},"institutions":[{"id":"https://openalex.org/I2800154431","display_name":"Keck Hospital of USC","ror":"https://ror.org/01rq8ck58","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2800154431"]},{"id":"https://openalex.org/I4405270452","display_name":"Saban Research Institute","ror":"https://ror.org/00qe7sv26","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405270452"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ami J. Shah","raw_affiliation_strings":["Department of Pediatrics, Keck School of Medicine","Division of Research Immunology/Bone Marrow Transplantation","Saban Research Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Keck School of Medicine","institution_ids":["https://openalex.org/I2800154431"]},{"raw_affiliation_string":"Division of Research Immunology/Bone Marrow Transplantation","institution_ids":[]},{"raw_affiliation_string":"Saban Research Institute","institution_ids":["https://openalex.org/I4405270452"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101459545","display_name":"Neena Kapoor","orcid":"https://orcid.org/0000-0002-3352-9651","observed_orcids":["https://orcid.org/0000-0002-3352-9651"]},"institutions":[{"id":"https://openalex.org/I2800154431","display_name":"Keck Hospital of USC","ror":"https://ror.org/01rq8ck58","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2800154431"]},{"id":"https://openalex.org/I4405270452","display_name":"Saban Research Institute","ror":"https://ror.org/00qe7sv26","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405270452"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Neena Kapoor","raw_affiliation_strings":["Department of Pediatrics, Keck School of Medicine","Division of Research Immunology/Bone Marrow Transplantation","Saban Research Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Keck School of Medicine","institution_ids":["https://openalex.org/I2800154431"]},{"raw_affiliation_string":"Division of Research Immunology/Bone Marrow Transplantation","institution_ids":[]},{"raw_affiliation_string":"Saban Research Institute","institution_ids":["https://openalex.org/I4405270452"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085643102","display_name":"Gay M. Crooks","orcid":"https://orcid.org/0000-0002-2488-8468","observed_orcids":["https://orcid.org/0000-0002-2488-8468"]},"institutions":[{"id":"https://openalex.org/I2800154431","display_name":"Keck Hospital of USC","ror":"https://ror.org/01rq8ck58","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2800154431"]},{"id":"https://openalex.org/I4405270452","display_name":"Saban Research Institute","ror":"https://ror.org/00qe7sv26","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405270452"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gay M. Crooks","raw_affiliation_strings":["Department of Pediatrics, Keck School of Medicine","Division of Research Immunology/Bone Marrow Transplantation","Saban Research Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Keck School of Medicine","institution_ids":["https://openalex.org/I2800154431"]},{"raw_affiliation_string":"Division of Research Immunology/Bone Marrow Transplantation","institution_ids":[]},{"raw_affiliation_string":"Saban Research Institute","institution_ids":["https://openalex.org/I4405270452"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045306382","display_name":"Robertson Parkman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800154431","display_name":"Keck Hospital of USC","ror":"https://ror.org/01rq8ck58","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2800154431"]},{"id":"https://openalex.org/I4405270452","display_name":"Saban Research Institute","ror":"https://ror.org/00qe7sv26","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405270452"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Robertson Parkman","raw_affiliation_strings":["Department of Pediatrics, Keck School of Medicine","Division of Research Immunology/Bone Marrow Transplantation","Saban Research Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Keck School of Medicine","institution_ids":["https://openalex.org/I2800154431"]},{"raw_affiliation_string":"Division of Research Immunology/Bone Marrow Transplantation","institution_ids":[]},{"raw_affiliation_string":"Saban Research Institute","institution_ids":["https://openalex.org/I4405270452"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046180673","display_name":"Kenneth I. Weinberg","orcid":"https://orcid.org/0000-0003-1922-9131","observed_orcids":["https://orcid.org/0000-0003-1922-9131"]},"institutions":[{"id":"https://openalex.org/I1336910626","display_name":"Children's Hospital Los Angeles","ror":"https://ror.org/00412ts95","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336910626"]},{"id":"https://openalex.org/I2800154431","display_name":"Keck Hospital of USC","ror":"https://ror.org/01rq8ck58","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2800154431"]},{"id":"https://openalex.org/I4405270452","display_name":"Saban Research Institute","ror":"https://ror.org/00qe7sv26","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405270452"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kenneth I. Weinberg","raw_affiliation_strings":["Department of Pediatrics, Keck School of Medicine","Division of Research Immunology/Bone Marrow Transplantation","General Clinical Research Center, Childrens Hospital Los Angeles, Los Angeles, California","Saban Research Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Keck School of Medicine","institution_ids":["https://openalex.org/I2800154431"]},{"raw_affiliation_string":"Division of Research Immunology/Bone Marrow Transplantation","institution_ids":[]},{"raw_affiliation_string":"General Clinical Research Center, Childrens Hospital Los Angeles, Los Angeles, California","institution_ids":["https://openalex.org/I1336910626"]},{"raw_affiliation_string":"Saban Research Institute","institution_ids":["https://openalex.org/I4405270452"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108474215","display_name":"Kathy Wilson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800154431","display_name":"Keck Hospital of USC","ror":"https://ror.org/01rq8ck58","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2800154431"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kathy Wilson","raw_affiliation_strings":["Department of Pediatrics, Keck School of Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Keck School of Medicine","institution_ids":["https://openalex.org/I2800154431"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5050971129","display_name":"Donald B. Kohn","orcid":"https://orcid.org/0000-0003-1840-6087","observed_orcids":["https://orcid.org/0000-0003-1840-6087"]},"institutions":[{"id":"https://openalex.org/I2800154431","display_name":"Keck Hospital of USC","ror":"https://ror.org/01rq8ck58","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2800154431"]},{"id":"https://openalex.org/I4405270452","display_name":"Saban Research Institute","ror":"https://ror.org/00qe7sv26","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405270452"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Donald B. Kohn","raw_affiliation_strings":["Department of Pediatrics, Keck School of Medicine","Division of Research Immunology/Bone Marrow Transplantation","Saban Research Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Keck School of Medicine","institution_ids":["https://openalex.org/I2800154431"]},{"raw_affiliation_string":"Division of Research Immunology/Bone Marrow Transplantation","institution_ids":[]},{"raw_affiliation_string":"Saban Research Institute","institution_ids":["https://openalex.org/I4405270452"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.7992,"has_fulltext":false,"cited_by_count":41,"citation_normalized_percentile":{"value":0.72786669,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"116","issue":"4","first_page":"1022","last_page":"1025"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9994999766349792,"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":0.9994999766349792,"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/T10345","display_name":"Hematopoietic Stem Cell Transplantation","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/niemann-pick-disease-type-b","display_name":"Niemann-Pick disease type B","score":0.9980000257492065},{"id":"https://openalex.org/keywords/hematopoietic-stem-cell-transplantation","display_name":"hematopoietic stem cell transplantation","score":0.9980000257492065},{"id":"https://openalex.org/keywords/sphingomyelinase-deficiency","display_name":"sphingomyelinase deficiency","score":0.7829999923706055},{"id":"https://openalex.org/keywords/graft-failure","display_name":"graft failure","score":0.7699999809265137},{"id":"https://openalex.org/keywords/graft-versus-host-disease","display_name":"graft-versus-host disease","score":0.9290000200271606},{"id":"https://openalex.org/keywords/lung-disease","display_name":"lung disease","score":0.8840000033378601},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.45399999618530273},{"id":"https://openalex.org/keywords/sibling-donor","display_name":"sibling donor","score":0.503000020980835}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9460599422454834},{"id":"https://openalex.org/C2777408962","wikidata":"https://www.wikidata.org/wiki/Q1128050","display_name":"Hematopoietic stem cell transplantation","level":3,"score":0.7512943744659424},{"id":"https://openalex.org/C2911091166","wikidata":"https://www.wikidata.org/wiki/Q106419912","display_name":"Transplantation","level":2,"score":0.627546489238739},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5655475854873657},{"id":"https://openalex.org/C2781457462","wikidata":"https://www.wikidata.org/wiki/Q16245045","display_name":"Acid sphingomyelinase","level":4,"score":0.4153100848197937},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2899821996688843},{"id":"https://openalex.org/C61322309","wikidata":"https://www.wikidata.org/wiki/Q423143","display_name":"Sphingomyelin","level":3,"score":0.06239762902259827},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.0}],"mesh":[{"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":"D006084","descriptor_name":"Graft Rejection","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009542","descriptor_name":"Niemann-Pick Diseases","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true},{"descriptor_ui":"D018380","descriptor_name":"Hematopoietic Stem Cell Transplantation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019172","descriptor_name":"Transplantation Conditioning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019233","descriptor_name":"Retreatment","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1542/peds.2005-0867","doi":"https://doi.org/10.1542/peds.2005-0867","is_oa":false,"landing_page_url":"https://doi.org/10.1542/peds.2005-0867","pdf_url":null,"source":{"id":"https://openalex.org/S77494981","display_name":"PEDIATRICS","issn_l":"0031-4005","issn":["0031-4005","1098-4275"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315734","host_organization_name":"American Academy of Pediatrics","host_organization_lineage":["https://openalex.org/P4310315734"],"host_organization_lineage_names":["American Academy of Pediatrics"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatrics","raw_type":"journal-article"},{"id":"pmid:16199719","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16199719","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":"Pediatrics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G5900184332","display_name":"General Clinical Research Center","funder_award_id":"M01RR000043","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"}],"funders":[{"id":"https://openalex.org/F4320310693","display_name":"Deutsches Krebsforschungszentrum","ror":"https://ror.org/04cdgtt98"},{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"},{"id":"https://openalex.org/F4320337376","display_name":"NIH Clinical Center","ror":"https://ror.org/04vfsmv21"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":8,"referenced_works":["https://openalex.org/W1970812474","https://openalex.org/W1983605980","https://openalex.org/W2029477976","https://openalex.org/W2035939608","https://openalex.org/W2074639205","https://openalex.org/W2083139822","https://openalex.org/W2120034344","https://openalex.org/W2333790047"],"related_works":["https://openalex.org/W2765321549","https://openalex.org/W2045003040","https://openalex.org/W2138715238","https://openalex.org/W1970812474","https://openalex.org/W2029477976","https://openalex.org/W4400469021","https://openalex.org/W2419194639","https://openalex.org/W2970152509","https://openalex.org/W4323066176","https://openalex.org/W2104682699"],"abstract_inverted_index":{"Histocompatible":[0],"hematopoietic":[1],"stem":[2],"cell":[3],"transplantation":[4],"(HSCT)":[5],"was":[6,19],"conducted":[7],"on":[8],"a":[9],"4.5-year-old":[10],"girl":[11],"with":[12],"Niemann-Pick":[13],"disease":[14],"type":[15],"B.":[16],"The":[17],"donor":[18],"her":[20,34,44,47],"unaffected":[21],"brother.":[22],"At":[23],"the":[24],"time":[25],"of":[26],"transplantation,":[27],"she":[28,37,54,67],"had":[29],"severe":[30],"pulmonary":[31,57],"disease.":[32],"After":[33],"first":[35],"HSCT,":[36,46],"developed":[38],"graft":[39,63],"failure.":[40],"Five":[41],"years":[42],"after":[43],"second":[45],"sphingomyelinase":[48],"levels":[49],"are":[50],"within":[51],"normal":[52],"levels,":[53],"has":[55],"no":[56],"symptoms,":[58],"and":[59],"aside":[60],"from":[61],"persistent":[62],"versus":[64],"host":[65],"disease,":[66],"is":[68],"doing":[69],"well.":[70]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}