{"id":"https://openalex.org/W4385951981","doi":"https://doi.org/10.1016/j.bonr.2023.101707","title":"Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia","display_name":"Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia","publication_year":2023,"publication_date":"2023-08-17","ids":{"openalex":"https://openalex.org/W4385951981","doi":"https://doi.org/10.1016/j.bonr.2023.101707","pmid":"https://pubmed.ncbi.nlm.nih.gov/37654679","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/10466911"},"language":"en","primary_location":{"id":"doi:10.1016/j.bonr.2023.101707","doi":"https://doi.org/10.1016/j.bonr.2023.101707","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.bonr.2023.101707","pdf_url":null,"source":{"id":"https://openalex.org/S2764541639","display_name":"Bone Reports","issn_l":"2352-1872","issn":["2352-1872"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-40","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bone Reports","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1016/j.bonr.2023.101707","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Julio Soto Barros","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I172787465","display_name":"University of Concepci\u00f3n","ror":"https://ror.org/0460jpj73","country_code":"CL","type":"education","lineage":["https://openalex.org/I172787465"]},{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]},{"id":"https://openalex.org/I4210165141","display_name":"Hospital Las Higueras","ror":"https://ror.org/05e3gef34","country_code":"CL","type":"healthcare","lineage":["https://openalex.org/I4210165141"]}],"countries":["CL","US"],"is_corresponding":false,"raw_author_name":"Julio Soto Barros","raw_affiliation_strings":["Department of Pediatrics (Endocrinology), Yale University School of Medicine, PO Box 208064, New Haven, CT 06520-8064, USA","Department of Pediatrics, Faculty of Medicine, University of Concepcion, Chacabuco esquina Janequeo S/N, 4070106 Concepcion, Chile","Las Higueras Hospital, Alto Horno 777, 4270918 Talcahuano, Chile"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics (Endocrinology), Yale University School of Medicine, PO Box 208064, New Haven, CT 06520-8064, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Department of Pediatrics, Faculty of Medicine, University of Concepcion, Chacabuco esquina Janequeo S/N, 4070106 Concepcion, Chile","institution_ids":["https://openalex.org/I172787465"]},{"raw_affiliation_string":"Las Higueras Hospital, Alto Horno 777, 4270918 Talcahuano, Chile","institution_ids":["https://openalex.org/I4210165141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062691997","display_name":"Demetrios T. Braddock","orcid":"https://orcid.org/0000-0002-0541-4689","observed_orcids":["https://orcid.org/0000-0002-0541-4689"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Demetrios Braddock","raw_affiliation_strings":["Department of Pathology, Yale University School of Medicine, New Haven, CT 06510, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Yale University School of Medicine, New Haven, CT 06510, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5006764055","display_name":"Thomas O. Carpenter","orcid":"https://orcid.org/0000-0003-1328-6768","observed_orcids":["https://orcid.org/0000-0003-1328-6768"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Thomas O. Carpenter","raw_affiliation_strings":["Department of Pediatrics (Endocrinology), Yale University School of Medicine, PO Box 208064, New Haven, CT 06520-8064, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics (Endocrinology), Yale University School of Medicine, PO Box 208064, New Haven, CT 06520-8064, USA","institution_ids":["https://openalex.org/I32971472"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5006764055"],"corresponding_institution_ids":["https://openalex.org/I32971472"],"apc_list":{"value":2160,"currency":"USD","value_usd":2160},"apc_paid":{"value":2160,"currency":"USD","value_usd":2160},"fwci":0.1819,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.50307677,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":95},"biblio":{"volume":"19","issue":null,"first_page":"101707","last_page":"101707"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10516","display_name":"Parathyroid Disorders and Treatments","score":0.9369999766349792,"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"}},"topics":[{"id":"https://openalex.org/T10516","display_name":"Parathyroid Disorders and Treatments","score":0.9369999766349792,"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"}},{"id":"https://openalex.org/T12924","display_name":"Dermatological and Skeletal Disorders","score":0.03189999982714653,"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/T13453","display_name":"Alkaline Phosphatase Research Studies","score":0.01590000092983246,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/craniometaphyseal-dysplasia","display_name":"craniometaphyseal dysplasia","score":0.953000009059906},{"id":"https://openalex.org/keywords/hypophosphatemic-rickets","display_name":"hypophosphatemic rickets","score":0.9860000014305115},{"id":"https://openalex.org/keywords/ankh","display_name":"ankh","score":0.7170000076293945},{"id":"https://openalex.org/keywords/phosphate-transport","display_name":"phosphate transport","score":0.3799999952316284},{"id":"https://openalex.org/keywords/renal-phosphate-reabsorption","display_name":"renal phosphate reabsorption","score":0.8519999980926514},{"id":"https://openalex.org/keywords/fgf23","display_name":"fibroblast growth factor 23","score":0.9290000200271606},{"id":"https://openalex.org/keywords/secondary-hyperparathyroidism","display_name":"secondary hyperparathyroidism","score":0.9399999976158142},{"id":"https://openalex.org/keywords/calcitriol-therapy","display_name":"calcitriol therapy","score":0.7900000214576721},{"id":"https://openalex.org/keywords/phosphate-supplementation","display_name":"phosphorus supplementation","score":0.5839999914169312},{"id":"https://openalex.org/keywords/skeletal-dysplasia","display_name":"skeletal dysplasia","score":0.8009999990463257},{"id":"https://openalex.org/keywords/infants","display_name":"infants","score":0.4860000014305115}],"concepts":[{"id":"https://openalex.org/C2911197707","wikidata":"https://www.wikidata.org/wiki/Q1779987","display_name":"Hypophosphatemic Rickets","level":4,"score":0.8839397430419922},{"id":"https://openalex.org/C2776489590","wikidata":"https://www.wikidata.org/wiki/Q183392","display_name":"Rickets","level":3,"score":0.8676064014434814},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6937005519866943},{"id":"https://openalex.org/C2781245598","wikidata":"https://www.wikidata.org/wiki/Q5182134","display_name":"Craniofacial","level":2,"score":0.6631614565849304},{"id":"https://openalex.org/C2778573388","wikidata":"https://www.wikidata.org/wiki/Q1641384","display_name":"Hypophosphatemia","level":2,"score":0.5963094234466553},{"id":"https://openalex.org/C2775894508","wikidata":"https://www.wikidata.org/wiki/Q1128996","display_name":"Dysplasia","level":2,"score":0.5962320566177368},{"id":"https://openalex.org/C2776079296","wikidata":"https://www.wikidata.org/wiki/Q139195","display_name":"Calcitriol","level":3,"score":0.5605517029762268},{"id":"https://openalex.org/C2779782008","wikidata":"https://www.wikidata.org/wiki/Q1632552","display_name":"Hyperostosis","level":2,"score":0.546087920665741},{"id":"https://openalex.org/C2776338720","wikidata":"https://www.wikidata.org/wiki/Q14913440","display_name":"PHEX","level":4,"score":0.5434814095497131},{"id":"https://openalex.org/C2781362533","wikidata":"https://www.wikidata.org/wiki/Q1410864","display_name":"Fibrous dysplasia","level":2,"score":0.5298863649368286},{"id":"https://openalex.org/C2778049618","wikidata":"https://www.wikidata.org/wiki/Q860395","display_name":"Osteomalacia","level":3,"score":0.5071272850036621},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5055382251739502},{"id":"https://openalex.org/C2778471162","wikidata":"https://www.wikidata.org/wiki/Q1313510","display_name":"Hypophosphatasia","level":4,"score":0.501617431640625},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4923001527786255},{"id":"https://openalex.org/C2775945674","wikidata":"https://www.wikidata.org/wiki/Q1344835","display_name":"Hyperparathyroidism","level":2,"score":0.46131205558776855},{"id":"https://openalex.org/C160160445","wikidata":"https://www.wikidata.org/wiki/Q24769688","display_name":"Alkaline phosphatase","level":3,"score":0.44067633152008057},{"id":"https://openalex.org/C124490489","wikidata":"https://www.wikidata.org/wiki/Q7936963","display_name":"Vitamin D and neurology","level":2,"score":0.3061276376247406},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2792006731033325},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.1916259229183197},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.12520912289619446},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","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},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1016/j.bonr.2023.101707","doi":"https://doi.org/10.1016/j.bonr.2023.101707","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.bonr.2023.101707","pdf_url":null,"source":{"id":"https://openalex.org/S2764541639","display_name":"Bone Reports","issn_l":"2352-1872","issn":["2352-1872"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-40","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bone Reports","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:10466911","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10466911","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10466911/pdf/main.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bone Rep","raw_type":"Text"},{"id":"pmid:37654679","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37654679","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":"Bone reports","raw_type":"Case Reports"},{"id":"pmh:oai:doaj.org/article:3e1fa1bc50484e7585d3c49089421a78","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/3e1fa1bc50484e7585d3c49089421a78","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bone Reports, Vol 19, Iss , Pp 101707- (2023)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1016/j.bonr.2023.101707","doi":"https://doi.org/10.1016/j.bonr.2023.101707","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.bonr.2023.101707","pdf_url":null,"source":{"id":"https://openalex.org/S2764541639","display_name":"Bone Reports","issn_l":"2352-1872","issn":["2352-1872"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-40","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bone Reports","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G9000866826","display_name":"ENPP1 regulation of mammalian bone mass","funder_award_id":"R01AR080416","funder_id":"https://openalex.org/F4320337362","funder_display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases"},{"id":"https://openalex.org/G9000905448","display_name":"Yale Clinical and Translational Science Award","funder_award_id":"UL1TR001863","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337362","display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","ror":"https://ror.org/006zn3t30"},{"id":"https://openalex.org/F4320337472","display_name":"National Center for Advancing Translational Sciences","ror":"https://ror.org/04pw6fb54"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4385951981.pdf","grobid_xml":"https://content.openalex.org/works/W4385951981.grobid-xml"},"referenced_works_count":26,"referenced_works":["https://openalex.org/W16140215","https://openalex.org/W1974898853","https://openalex.org/W1975939208","https://openalex.org/W1986974712","https://openalex.org/W2003724233","https://openalex.org/W2008991452","https://openalex.org/W2019590219","https://openalex.org/W2043805403","https://openalex.org/W2045192172","https://openalex.org/W2056517007","https://openalex.org/W2064036849","https://openalex.org/W2064178503","https://openalex.org/W2077260662","https://openalex.org/W2096378043","https://openalex.org/W2120137807","https://openalex.org/W2250962974","https://openalex.org/W2505445661","https://openalex.org/W2539262945","https://openalex.org/W2669240480","https://openalex.org/W2765537232","https://openalex.org/W2897653272","https://openalex.org/W3022376469","https://openalex.org/W3035991773","https://openalex.org/W3134422701","https://openalex.org/W4211227847","https://openalex.org/W4376273047"],"related_works":["https://openalex.org/W2250962974","https://openalex.org/W2090312953","https://openalex.org/W7151464807","https://openalex.org/W4388166342","https://openalex.org/W2412595070","https://openalex.org/W2567607823","https://openalex.org/W4400568001","https://openalex.org/W2016073559","https://openalex.org/W3035991773","https://openalex.org/W7140238960"],"abstract_inverted_index":{"Craniometaphyseal":[0],"dysplasia":[1,8],"(CMD)":[2],"is":[3],"an":[4,58],"infrequently":[5],"occurring":[6,48],"skeletal":[7],"often":[9],"caused":[10],"by":[11],"a":[12,92,104],"mutation":[13],"in":[14,50,132,146],"ANKH.":[15],"The":[16],"most":[17],"common":[18],"features":[19],"are":[20],"early":[21,49],"and":[22,35,70,78,98,153],"progressive":[23],"hyperostosis":[24],"of":[25,32,38,53,81,86,96,106,117,125,141,148,156],"craniofacial":[26],"bones,":[27],"which":[28],"may":[29],"cause":[30],"obstruction":[31],"cranial":[33],"nerves,":[34],"metaphyseal":[36],"flaring":[37],"long":[39],"bones.":[40],"Rarely,":[41],"rickets":[42,82],"has":[43],"been":[44],"associated":[45],"with":[46,60,64,103,110],"CMD,":[47],"the":[51,54,149],"course":[52],"disease.":[55],"We":[56],"report":[57],"infant":[59],"CMD":[61],"who":[62],"presented":[63],"elevated":[65],"serum":[66,72],"alkaline":[67],"phosphatase":[68],"activity":[69],"low":[71],"phosphorus":[73,107,111],"at":[74,83,114],"age":[75,142],"1":[76],"month":[77],"radiographic":[79,154],"changes":[80],"3":[84],"months":[85,116,140],"age.":[87],"Further":[88],"biochemical":[89,151],"investigations":[90],"revealed":[91],"high":[93],"tubular":[94],"reabsorption":[95],"phosphate":[97],"suppressed":[99],"FGF23":[100],"level":[101],"congruent":[102],"deficit":[105],"availability.":[108],"Therapy":[109],"was":[112,120,136,144],"started":[113],"4":[115],"age;":[118],"calcitriol":[119],"subsequently":[121],"added":[122],"upon":[123],"emergence":[124],"secondary":[126],"hyperparathyroidism.":[127],"A":[128],"heterozygous":[129],"pathogenic":[130],"variant":[131],"ANKH":[133],"c.1124_1126del":[134],"(p.Ser375del)":[135],"identified.":[137],"At":[138],"19":[139],"therapy":[143],"discontinued":[145],"view":[147],"corrected":[150],"profile":[152],"improvement":[155],"rickets.":[157],"\u00a9The":[158],"Authors.":[159],"All":[160],"rights":[161],"reserved.":[162]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2023-08-18T00:00:00"}
