{"id":"https://openalex.org/W4250737450","doi":"https://doi.org/10.1001/jama.1997.03540330068037","title":"Osteogenesis Imperfecta Rehabilitation and Prospects for Gene Therapy","display_name":"Osteogenesis Imperfecta Rehabilitation and Prospects for Gene Therapy","publication_year":1997,"publication_date":"1997-03-05","ids":{"openalex":"https://openalex.org/W4250737450","doi":"https://doi.org/10.1001/jama.1997.03540330068037"},"language":"en","primary_location":{"id":"doi:10.1001/jama.1997.03540330068037","doi":"https://doi.org/10.1001/jama.1997.03540330068037","is_oa":false,"landing_page_url":"https://doi.org/10.1001/jama.1997.03540330068037","pdf_url":null,"source":{"id":"https://openalex.org/S172573765","display_name":"JAMA","issn_l":"0002-9955","issn":["0002-9955","0098-7484","1538-3598","2376-8118"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-3","ki-jl-3","medline","norway-2"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JAMA: The Journal of the American Medical Association","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"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/A5024925022","display_name":"Joan C. Marini","orcid":"https://orcid.org/0000-0002-3685-0950","observed_orcids":["https://orcid.org/0000-0002-3685-0950"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Joan C. Marini","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5024925022"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.1052,"has_fulltext":false,"cited_by_count":32,"citation_normalized_percentile":{"value":0.78401143,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"277","issue":"9","first_page":"746","last_page":"746"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T11310","display_name":"Connective tissue disorders research","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T12924","display_name":"Dermatological and Skeletal Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/osteogenesis-imperfecta-type-iv","display_name":"osteogenesis imperfecta type IV","score":0.9390000104904175},{"id":"https://openalex.org/keywords/rehabilitation","display_name":"rehabilitation","score":0.6800000071525574},{"id":"https://openalex.org/keywords/gene-therapy","display_name":"gene therapy","score":0.9940000176429749},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.4180000126361847},{"id":"https://openalex.org/keywords/femoral-fracture","display_name":"femoral fracture","score":0.7210000157356262},{"id":"https://openalex.org/keywords/hip-spica-cast","display_name":"hip spica cast","score":0.8679999709129333},{"id":"https://openalex.org/keywords/joint-laxity","display_name":"joint laxity","score":0.7369999885559082},{"id":"https://openalex.org/keywords/exercise","display_name":"physical activity","score":0.5759999752044678}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.971777081489563},{"id":"https://openalex.org/C2777668750","wikidata":"https://www.wikidata.org/wiki/Q749409","display_name":"Osteogenesis imperfecta","level":2,"score":0.8184405565261841},{"id":"https://openalex.org/C2780554211","wikidata":"https://www.wikidata.org/wiki/Q176503","display_name":"Femur","level":2,"score":0.5176723003387451},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.5116592049598694},{"id":"https://openalex.org/C2778047097","wikidata":"https://www.wikidata.org/wiki/Q3031","display_name":"Girl","level":2,"score":0.4218071699142456},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.14116045832633972},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.0},{"id":"https://openalex.org/C138496976","wikidata":"https://www.wikidata.org/wiki/Q175002","display_name":"Developmental psychology","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1001/jama.1997.03540330068037","doi":"https://doi.org/10.1001/jama.1997.03540330068037","is_oa":false,"landing_page_url":"https://doi.org/10.1001/jama.1997.03540330068037","pdf_url":null,"source":{"id":"https://openalex.org/S172573765","display_name":"JAMA","issn_l":"0002-9955","issn":["0002-9955","0098-7484","1538-3598","2376-8118"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-3","ki-jl-3","medline","norway-2"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JAMA: The Journal of the American Medical Association","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8199999928474426}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2463794609","https://openalex.org/W1881108647","https://openalex.org/W2424544797","https://openalex.org/W2463471700","https://openalex.org/W2415165292","https://openalex.org/W2412874312","https://openalex.org/W4309095954","https://openalex.org/W2441559178","https://openalex.org/W2047967234","https://openalex.org/W2439875401"],"abstract_inverted_index":{"SELECTED":[0],"CASE":[1],"A":[2],"6-year-old":[3],"girl":[4],"with":[5,76],"type":[6],"IV":[7],"osteogenesis":[8],"imperfecta":[9],"(OI)":[10],"was":[11,28,47,60,74,87,95,102,140,144],"seen":[12],"initially":[13],"at":[14,21,44,104,110],"the":[15,22,29,85,111],"National":[16],"Institutes":[17],"of":[18,24,31,57,100,113],"Health":[19],"(NIH)":[20],"age":[23,58,112],"3":[25,55,114],"months.":[26],"She":[27,40],"product":[30],"an":[32,89],"uncomplicated":[33],"term":[34],"pregnancy":[35],"delivered":[36],"by":[37],"cesarean":[38],"section.":[39],"weighed":[41],"2.4":[42],"kg":[43],"birth":[45],"and":[46,73,123,131,136],"noted":[48,61],"to":[49,62,145],"have":[50,63],"a":[51,64,70,77],"soft":[52],"skull.":[53],"At":[54],"months":[56],"she":[59,116],"swollen":[65],"right":[66],"thigh,":[67],"diagnosed":[68],"as":[69],"femur":[71,93,139],"fracture,":[72],"treated":[75],"hip":[78],"spica":[79],"cast":[80],"for":[81],"6":[82],"weeks.":[83],"When":[84],"radiograph":[86],"taken,":[88],"old":[90],"healed":[91],"left":[92,138],"fracture":[94],"also":[96],"seen.":[97],"The":[98],"diagnosis":[99],"OI":[101],"made":[103],"that":[105],"time.":[106],"On":[107],"physical":[108,147],"examination":[109],"months,":[115],"could":[117],"lie":[118],"prone,":[119],"support":[120],"her":[121,137],"head,":[122],"lift":[124],"all":[125],"limbs":[126],"against":[127],"gravity.":[128],"Her":[129],"knee":[130],"ankle":[132],"joints":[133],"were":[134],"lax,":[135],"bowed":[141],"45\u00b0.":[142],"Treatment":[143],"encourage":[146],"activity":[148],"through":[149]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2025-10-10T00:00:00"}
