{"id":"https://openalex.org/W2118940680","doi":"https://doi.org/10.1210/jc.2004-0251","title":"Neonatal Lethal Osteochondrodysplasia with Low Serum Levels of Alkaline Phosphatase and Osteocalcin","display_name":"Neonatal Lethal Osteochondrodysplasia with Low Serum Levels of Alkaline Phosphatase and Osteocalcin","publication_year":2005,"publication_date":"2005-02-01","ids":{"openalex":"https://openalex.org/W2118940680","doi":"https://doi.org/10.1210/jc.2004-0251","mag":"2118940680","pmid":"https://pubmed.ncbi.nlm.nih.gov/15562030"},"language":"en","primary_location":{"id":"doi:10.1210/jc.2004-0251","doi":"https://doi.org/10.1210/jc.2004-0251","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jc.2004-0251","pdf_url":null,"source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Clinical Endocrinology & Metabolism","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/A5076032909","display_name":"Myra Helen Wyckoff","orcid":"https://orcid.org/0000-0003-0483-0346","observed_orcids":["https://orcid.org/0000-0003-0483-0346"]},"institutions":[{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Myra H. Wyckoff","raw_affiliation_strings":["Departments of Pediatrics (M.H.W., C.E.-T., A.L.), Dallas, Texas 75390","Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics (M.H.W., C.E.-T., A.L.), Dallas, Texas 75390","institution_ids":[]},{"raw_affiliation_string":"Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA;","institution_ids":["https://openalex.org/I867280407"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068364162","display_name":"Chirine El-Turk","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Chirine El-Turk","raw_affiliation_strings":["Departments of Pediatrics (M.H.W., C.E.-T., A.L.), Dallas, Texas 75390"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics (M.H.W., C.E.-T., A.L.), Dallas, Texas 75390","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016348631","display_name":"Abbot R. Laptook","orcid":"https://orcid.org/0000-0001-9848-3466","observed_orcids":["https://orcid.org/0000-0001-9848-3466"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Abbot Laptook","raw_affiliation_strings":["Departments of Pediatrics (M.H.W., C.E.-T., A.L.), Dallas, Texas 75390"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics (M.H.W., C.E.-T., A.L.), Dallas, Texas 75390","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062390188","display_name":"Charles Franklin Timmons","orcid":"https://orcid.org/0000-0002-5274-8569","observed_orcids":["https://orcid.org/0000-0002-5274-8569"]},"institutions":[{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charles Timmons","raw_affiliation_strings":["Pathology (C.T.), University of Texas Southwestern Medical Center, Dallas, Texas 75390"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pathology (C.T.), University of Texas Southwestern Medical Center, Dallas, Texas 75390","institution_ids":["https://openalex.org/I867280407"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051587177","display_name":"Francis H. Gannon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210151970","display_name":"Armed Forces Institute of Pathology","ror":"https://ror.org/04se3fj97","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210151970"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Francis H. Gannon","raw_affiliation_strings":["Orthopedic Pathology (F.H.G.), Armed Forces Institute of Pathology, Washington, D.C. 20306-6000"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Orthopedic Pathology (F.H.G.), Armed Forces Institute of Pathology, Washington, D.C. 20306-6000","institution_ids":["https://openalex.org/I4210151970"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061903176","display_name":"Xiafang Zhang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299725459","display_name":"Barnes-Jewish Hospital","ror":"https://ror.org/04wyvkr12","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1299725459","https://openalex.org/I1328499231"]},{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xiafang Zhang","raw_affiliation_strings":["Division of Bone and Mineral Diseases (X.Z., S.M., M.P.W.), Washington University School of Medicine, Barnes-Jewish Hospital, St. Louis, Missouri 63110"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Bone and Mineral Diseases (X.Z., S.M., M.P.W.), Washington University School of Medicine, Barnes-Jewish Hospital, St. Louis, Missouri 63110","institution_ids":["https://openalex.org/I1299725459","https://openalex.org/I204465549"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018740865","display_name":"Steven R. Mumm","orcid":"https://orcid.org/0000-0001-9267-4413","observed_orcids":["https://orcid.org/0000-0001-9267-4413"]},"institutions":[{"id":"https://openalex.org/I1299725459","display_name":"Barnes-Jewish Hospital","ror":"https://ror.org/04wyvkr12","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1299725459","https://openalex.org/I1328499231"]},{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]},{"id":"https://openalex.org/I4210158667","display_name":"Shriners Hospitals for Children - St. Louis","ror":"https://ror.org/049mpkx27","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210144267","https://openalex.org/I4210158667"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Steven Mumm","raw_affiliation_strings":["Center for Metabolic Bone Disease and Molecular Research (S.M., M.P.W.), Shriners Hospitals for Children, St. Louis, Missouri 63131","Division of Bone and Mineral Diseases (X.Z., S.M., M.P.W.), Washington University School of Medicine, Barnes-Jewish Hospital, St. Louis, Missouri 63110"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Metabolic Bone Disease and Molecular Research (S.M., M.P.W.), Shriners Hospitals for Children, St. Louis, Missouri 63131","institution_ids":["https://openalex.org/I4210158667"]},{"raw_affiliation_string":"Division of Bone and Mineral Diseases (X.Z., S.M., M.P.W.), Washington University School of Medicine, Barnes-Jewish Hospital, St. Louis, Missouri 63110","institution_ids":["https://openalex.org/I1299725459","https://openalex.org/I204465549"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5036775753","display_name":"Michael P. Whyte","orcid":"https://orcid.org/0000-0002-8755-8490","observed_orcids":["https://orcid.org/0000-0002-8755-8490"]},"institutions":[{"id":"https://openalex.org/I1299725459","display_name":"Barnes-Jewish Hospital","ror":"https://ror.org/04wyvkr12","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1299725459","https://openalex.org/I1328499231"]},{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]},{"id":"https://openalex.org/I4210158667","display_name":"Shriners Hospitals for Children - St. Louis","ror":"https://ror.org/049mpkx27","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210144267","https://openalex.org/I4210158667"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael P. Whyte","raw_affiliation_strings":["Center for Metabolic Bone Disease and Molecular Research (S.M., M.P.W.), Shriners Hospitals for Children, St. Louis, Missouri 63131","Division of Bone and Mineral Diseases (X.Z., S.M., M.P.W.), Washington University School of Medicine, Barnes-Jewish Hospital, St. Louis, Missouri 63110"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Metabolic Bone Disease and Molecular Research (S.M., M.P.W.), Shriners Hospitals for Children, St. Louis, Missouri 63131","institution_ids":["https://openalex.org/I4210158667"]},{"raw_affiliation_string":"Division of Bone and Mineral Diseases (X.Z., S.M., M.P.W.), Washington University School of Medicine, Barnes-Jewish Hospital, St. Louis, Missouri 63110","institution_ids":["https://openalex.org/I1299725459","https://openalex.org/I204465549"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3750,"currency":"USD","value_usd":3750},"apc_paid":null,"fwci":0.8209,"has_fulltext":false,"cited_by_count":16,"citation_normalized_percentile":{"value":0.7646066,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"90","issue":"2","first_page":"1233","last_page":"1240"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13453","display_name":"Alkaline Phosphatase Research Studies","score":0.5127000212669373,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T13453","display_name":"Alkaline Phosphatase Research Studies","score":0.5127000212669373,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T11219","display_name":"Bone Metabolism and Diseases","score":0.10670000314712524,"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"}},{"id":"https://openalex.org/T10516","display_name":"Parathyroid Disorders and Treatments","score":0.09179999679327011,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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/skeletal-dysplasia","display_name":"skeletal dysplasia","score":0.8960000276565552},{"id":"https://openalex.org/keywords/hypophosphatasia","display_name":"hypophosphatasia","score":0.7940000295639038},{"id":"https://openalex.org/keywords/cleidocranial-dysplasia","display_name":"cleidocranial dysplasia","score":0.9990000128746033},{"id":"https://openalex.org/keywords/parathyroid-insufficiency","display_name":"parathyroid insufficiency","score":0.8669999837875366},{"id":"https://openalex.org/keywords/critical-illness","display_name":"critical illness","score":0.6690000295639038},{"id":"https://openalex.org/keywords/alkaline-phosphatase","display_name":"alkaline phosphatase","score":0.7739999890327454},{"id":"https://openalex.org/keywords/osteocalcin","display_name":"osteocalcin","score":0.9959999918937683},{"id":"https://openalex.org/keywords/endochondral-ossification","display_name":"endochondral ossification","score":0.7850000262260437},{"id":"https://openalex.org/keywords/intramembranous-ossification","display_name":"intramembranous ossification","score":0.9049999713897705},{"id":"https://openalex.org/keywords/respiratory-failure","display_name":"respiratory failure","score":0.7559999823570251},{"id":"https://openalex.org/keywords/osterix","display_name":"Osterix","score":0.6549999713897705},{"id":"https://openalex.org/keywords/core-binding-factor","display_name":"core binding factor","score":0.8389999866485596}],"concepts":[{"id":"https://openalex.org/C17938293","wikidata":"https://www.wikidata.org/wiki/Q3312710","display_name":"Endochondral ossification","level":3,"score":0.8903064727783203},{"id":"https://openalex.org/C188945261","wikidata":"https://www.wikidata.org/wiki/Q10746904","display_name":"Intramembranous ossification","level":2,"score":0.6866738200187683},{"id":"https://openalex.org/C131075544","wikidata":"https://www.wikidata.org/wiki/Q415863","display_name":"Osteocalcin","level":4,"score":0.6494489908218384},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.6439293026924133},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5996222496032715},{"id":"https://openalex.org/C2776260777","wikidata":"https://www.wikidata.org/wiki/Q3251367","display_name":"Osteochondrodysplasia","level":2,"score":0.49817419052124023},{"id":"https://openalex.org/C2778842504","wikidata":"https://www.wikidata.org/wiki/Q1121544","display_name":"Ossification","level":2,"score":0.48160192370414734},{"id":"https://openalex.org/C2780309369","wikidata":"https://www.wikidata.org/wiki/Q933382","display_name":"Calcification","level":2,"score":0.4784381687641144},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4447322189807892},{"id":"https://openalex.org/C160160445","wikidata":"https://www.wikidata.org/wiki/Q24769688","display_name":"Alkaline phosphatase","level":3,"score":0.433858722448349},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.36632871627807617},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.31440669298171997},{"id":"https://openalex.org/C2780550940","wikidata":"https://www.wikidata.org/wiki/Q502730","display_name":"Cartilage","level":2,"score":0.1719384789466858},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000469","descriptor_name":"Alkaline Phosphatase","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D000469","descriptor_name":"Alkaline Phosphatase","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D000469","descriptor_name":"Alkaline Phosphatase","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","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":"D002675","descriptor_name":"Child, Preschool","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":"D006801","descriptor_name":"Humans","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":"D006996","descriptor_name":"Hypocalcemia","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D006996","descriptor_name":"Hypocalcemia","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D006996","descriptor_name":"Hypocalcemia","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D011859","descriptor_name":"Radiography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011859","descriptor_name":"Radiography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011859","descriptor_name":"Radiography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013131","descriptor_name":"Spine","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D013131","descriptor_name":"Spine","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D013131","descriptor_name":"Spine","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D013131","descriptor_name":"Spine","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D013131","descriptor_name":"Spine","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D013131","descriptor_name":"Spine","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D013131","descriptor_name":"Spine","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D013131","descriptor_name":"Spine","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D013131","descriptor_name":"Spine","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D015675","descriptor_name":"Osteocalcin","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D015675","descriptor_name":"Osteocalcin","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D015675","descriptor_name":"Osteocalcin","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D017809","descriptor_name":"Fatal Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017809","descriptor_name":"Fatal Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017809","descriptor_name":"Fatal Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1210/jc.2004-0251","doi":"https://doi.org/10.1210/jc.2004-0251","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jc.2004-0251","pdf_url":null,"source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Clinical Endocrinology & Metabolism","raw_type":"journal-article"},{"id":"pmid:15562030","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15562030","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":"The Journal of clinical endocrinology and metabolism","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"sustainable_development_goals_aurora":[],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320332194","display_name":"Johnson and Johnson","ror":"https://ror.org/03qd7mz70"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":54,"referenced_works":["https://openalex.org/W127463355","https://openalex.org/W152506992","https://openalex.org/W1483242733","https://openalex.org/W1518105100","https://openalex.org/W1519918067","https://openalex.org/W1543856694","https://openalex.org/W1565768007","https://openalex.org/W1640252537","https://openalex.org/W1964218430","https://openalex.org/W1964570138","https://openalex.org/W1970254494","https://openalex.org/W1975573720","https://openalex.org/W1985131425","https://openalex.org/W1994460887","https://openalex.org/W1997156625","https://openalex.org/W1997812904","https://openalex.org/W2002840926","https://openalex.org/W2002879933","https://openalex.org/W2006048313","https://openalex.org/W2006118755","https://openalex.org/W2008240965","https://openalex.org/W2013714561","https://openalex.org/W2023331400","https://openalex.org/W2025046506","https://openalex.org/W2033498402","https://openalex.org/W2036287488","https://openalex.org/W2044610488","https://openalex.org/W2048182714","https://openalex.org/W2056825523","https://openalex.org/W2058428443","https://openalex.org/W2058628090","https://openalex.org/W2067080110","https://openalex.org/W2072637750","https://openalex.org/W2074908488","https://openalex.org/W2081062283","https://openalex.org/W2082575625","https://openalex.org/W2083367404","https://openalex.org/W2087067207","https://openalex.org/W2105723130","https://openalex.org/W2114528551","https://openalex.org/W2122367477","https://openalex.org/W2134305063","https://openalex.org/W2141103280","https://openalex.org/W2162402583","https://openalex.org/W2169169468","https://openalex.org/W2169748979","https://openalex.org/W2233856890","https://openalex.org/W2339129901","https://openalex.org/W4242442590","https://openalex.org/W4290970913","https://openalex.org/W4298421128","https://openalex.org/W6606197955","https://openalex.org/W6633972938","https://openalex.org/W6636922618"],"related_works":["https://openalex.org/W2055613357","https://openalex.org/W2903489231","https://openalex.org/W2081062283","https://openalex.org/W4302592725","https://openalex.org/W7217233942","https://openalex.org/W2151286507","https://openalex.org/W3009236677","https://openalex.org/W2792405693","https://openalex.org/W1970254494","https://openalex.org/W2005666133"],"abstract_inverted_index":{"Neonatal":[0],"lethal":[1],"skeletal":[2,41,87],"dysplasias":[3],"are":[4],"rare":[5],"and":[6,11,34,43,55,60,65,104,123,134,195],"typically":[7],"involve":[8],"thoracic":[9],"malformations":[10],"severe":[12],"limb":[13],"shortening.":[14],"We":[15],"report":[16],"on":[17],"a":[18,47,189],"newborn":[19],"boy":[20],"manifesting":[21],"an":[22],"osteochondrodysplasia":[23,191],"associated":[24,176],"with":[25,95,177],"fatal":[26],"respiratory":[27],"insufficiency":[28,75],"who":[29],"had":[30],"normal":[31],"lung":[32],"volumes":[33],"extremity":[35],"lengths.":[36],"His":[37],"disorder":[38,173],"featured":[39],"aberrant":[40],"patterning":[42],"defective":[44],"ossification":[45],"including":[46],"severely":[48],"osteopenic":[49],"skull,":[50],"apparent":[51],"absence":[52],"of":[53,57,86,99,107,117,169],"clavicles,":[54],"clefting":[56],"the":[58,126,141,153,158,167],"mandible":[59],"vertebrae.":[61],"Serum":[62],"alkaline":[63],"phosphatase":[64],"osteocalcin":[66,156],"levels":[67],"were":[68,112,137],"markedly":[69],"low.":[70],"Biochemical":[71],"studies":[72],"suggested":[73],"parathyroid":[74],"probably":[76],"from":[77],"critical":[78],"illness.":[79],"Histopathology":[80],"at":[81],"autopsy":[82],"excluded":[83],"impaired":[84],"mineralization":[85],"matrix,":[88],"but":[89,184],"endochondral":[90,196],"bone":[91,197],"formation":[92],"appeared":[93],"disorganized":[94],"growth":[96],"plate":[97],"clustering":[98],"chondrocytes":[100],"in":[101,105,139,152,180],"hypertrophic":[102],"zones":[103,106],"provisional":[108],"calcification.":[109],"Parathyroid":[110],"glands":[111],"not":[113,130,174],"found.":[114],"Despite":[115],"features":[116],"two":[118],"distinctive":[119],"heritable":[120],"entities,":[121],"hypophosphatasia":[122],"cleidocranial":[124,170],"dysplasia,":[125],"cumulative":[127],"findings":[128],"did":[129],"match":[131],"either":[132,140],"condition,":[133],"no":[135],"mutations":[136],"found":[138],"tissue":[142],"nonspecific":[143],"ALP":[144],"isoenzyme":[145],"or":[146,151,157],"core-binding":[147,181],"factor":[148,161,182],"genes,":[149],"respectively,":[150],"genes":[154],"encoding":[155],"osteoblast":[159],"transcription":[160],"osterix.":[162],"This":[163],"patient":[164],"could":[165],"represent":[166],"extreme":[168],"dysplasia":[171],"(a":[172],"always":[175],"structural":[178],"mutation":[179],"A1),":[183],"more":[185],"likely":[186],"he":[187],"defines":[188],"unique":[190],"disrupting":[192],"both":[193],"intramembranous":[194],"formation.":[198]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1}],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2016-06-24T00:00:00"}