{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T16:31:27Z","timestamp":1790958687719,"version":"4.1.0"},"reference-count":52,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"},{"start":{"date-parts":[[2022,4,11]],"date-time":"2022-04-11T00:00:00Z","timestamp":1649635200000},"content-version":"vor","delay-in-days":496,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100019959","name":"Inozyme Pharma","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100019959","id-type":"DOI","asserted-by":"crossref"}]},{"name":"JSPS KAKENHI","award":["JP21K09293"],"award-info":[{"award-number":["JP21K09293"]}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 DK121326"],"award-info":[{"award-number":["R01 DK121326"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 DK121326"],"award-info":[{"award-number":["R01 DK121326"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,12,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Homozygous ENPP1 mutations are associated with autosomal recessive hypophosphatemic rickets type 2 (ARHR2), severe ossification of the spinal ligaments, and generalized arterial calcification of infancy type 1. There are a limited number of reports on phenotypes associated with heterozygous ENPP1 mutations. Here, we report a series of three probands and their families with heterozygous and compound heterozygous ENPP1 mutations. The first case (case 1) was a 47-year-old male, diagnosed with early-onset osteoporosis and low-normal serum phosphate levels, which invoked suspicion for hypophosphatemic rickets. The second and third cases were 77- and 54-year-old females who both presented with severe spinal ligament ossification and the presumptive diagnosis of diffuse idiopathic skeletal hyperostosis (DISH). Upon workup, fibroblast growth factor 23 (FGF23) was noted to be relatively high in case 2 and serum phosphorous was low-normal in case 3, and the diagnoses of X-linked hypophosphatemic rickets (XLH) and ARHR2 were considered. Genetic testing for genes related to congenital hypophosphatemic rickets was therefore performed, revealing heterozygous ENPP1 variants in cases 1 and 2 (case 1, c.536A&amp;gt;G, p.Asn179Ser; case 2, c.1352A&amp;gt;G, p.Tyr451Cys) and compound heterozygous ENPP1 variants in case 3 constituting the same variants present in cases 1 and 2 (c.536A&amp;gt;G, p.Asn179Ser and c.1352A&amp;gt;G, p.Tyr451Cys). Several in silico tools predicted the two variants to be pathogeneic, a finding confirmed by in vitro biochemical analysis demonstrating that the p.Asn179Ser and p.Tyr451Cys ENPP1 variants possessed a catalytic velocity of 45% and 30% compared with that of wild-type ENPP1, respectively. Both variants were therefore categorized as pathogenic loss-of-function mutations. Our findings suggest that ENPP1 mutational status should be evaluated in patients presenting with the diagnosis of idiopathic DISH, ossification of the posterior longitudinal ligament (OPLL), and early-onset osteoporosis. \u00a9 2022 American Society for Bone and Mineral Research (ASBMR).<\/jats:p>","DOI":"10.1002\/jbmr.4550","type":"journal-article","created":{"date-parts":[[2022,3,27]],"date-time":"2022-03-27T02:38:46Z","timestamp":1648348726000},"page":"1125-1135","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":42,"title":["Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis"],"prefix":"10.1093","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9178-7846","authenticated-orcid":false,"given":"Hajime","family":"Kato","sequence":"first","affiliation":[{"name":"Osteoporosis Center The University of Tokyo Hospital Tokyo Japan"},{"name":"Division of Nephrology and Endocrinology The University of Tokyo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0266-8392","authenticated-orcid":false,"given":"Anenya J","family":"Ansh","sequence":"additional","affiliation":[{"name":"Department of Pathology Yale University New Haven CT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7539-0379","authenticated-orcid":false,"given":"Ethan R","family":"Lester","sequence":"additional","affiliation":[{"name":"Department of Pathology Yale University New Haven CT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6583-0879","authenticated-orcid":false,"given":"Yuka","family":"Kinoshita","sequence":"additional","affiliation":[{"name":"Osteoporosis Center The University of Tokyo Hospital Tokyo Japan"},{"name":"Division of Nephrology and Endocrinology The University of Tokyo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5450-2247","authenticated-orcid":false,"given":"Naoko","family":"Hidaka","sequence":"additional","affiliation":[{"name":"Osteoporosis Center The University of Tokyo Hospital Tokyo Japan"},{"name":"Division of Nephrology and Endocrinology The University of Tokyo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshitomo","family":"Hoshino","sequence":"additional","affiliation":[{"name":"Osteoporosis Center The University of Tokyo Hospital Tokyo Japan"},{"name":"Division of Nephrology and Endocrinology The University of Tokyo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minae","family":"Koga","sequence":"additional","affiliation":[{"name":"Osteoporosis Center The University of Tokyo Hospital Tokyo Japan"},{"name":"Division of Nephrology and Endocrinology The University of Tokyo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2329-123X","authenticated-orcid":false,"given":"Yuki","family":"Taniguchi","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery The University of Tokyo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4511-4901","authenticated-orcid":false,"given":"Taisuke","family":"Uchida","sequence":"additional","affiliation":[{"name":"Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine University of Miyazaki Miyazaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2319-7988","authenticated-orcid":false,"given":"Hideki","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine University of Miyazaki Miyazaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5641-7962","authenticated-orcid":false,"given":"Yo","family":"Niida","sequence":"additional","affiliation":[{"name":"Division of Genomic Medicine, Department of Advanced Medicine Medical Research Institute, Kanazawa Medical University Kanazawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6270-2943","authenticated-orcid":false,"given":"Masamitsu","family":"Nakazato","sequence":"additional","affiliation":[{"name":"Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine University of Miyazaki Miyazaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7401-2934","authenticated-orcid":false,"given":"Masaomi","family":"Nangaku","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Endocrinology The University of Tokyo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5722-115X","authenticated-orcid":false,"given":"Noriko","family":"Makita","sequence":"additional","affiliation":[{"name":"Osteoporosis Center The University of Tokyo Hospital Tokyo Japan"},{"name":"Division of Nephrology and Endocrinology The University of Tokyo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshinari","family":"Takamura","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Kanazawa University Graduate School of Medical Sciences Kanazawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4911-3930","authenticated-orcid":false,"given":"Taku","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery The University of Tokyo Hospital Tokyo Japan"},{"name":"Osteoporosis Center The University of Tokyo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0541-4689","authenticated-orcid":false,"given":"Demetrios T","family":"Braddock","sequence":"additional","affiliation":[{"name":"Department of Pathology Yale University New Haven CT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4071-5372","authenticated-orcid":false,"given":"Nobuaki","family":"Ito","sequence":"additional","affiliation":[{"name":"Osteoporosis Center The University of Tokyo Hospital Tokyo Japan"},{"name":"Division of Nephrology and Endocrinology The University of Tokyo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,3,26]]},"reference":[{"key":"2024012713573239300_jbmr4550-bib-0001","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.ajhg.2010.01.006","article-title":"Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets","volume":"86","author":"Lorenz-Depiereux","year":"2010","journal-title":"Am J Hum Genet."},{"key":"2024012713573239300_jbmr4550-bib-0002","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.ajhg.2010.01.010","article-title":"Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene","volume":"86","author":"Levy-litan","year":"2010","journal-title":"Am J Hum Genet."},{"key":"2024012713573239300_jbmr4550-bib-0003","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0925-4439(03)00058-9","article-title":"Physiological and pathophysiological functions of the ecto-nucleotide pyrophosphatase\/phosphodiesterase family","volume":"1638","author":"Goding","year":"2003","journal-title":"Biochim Biophys Acta Mol Basis Dis."},{"key":"2024012713573239300_jbmr4550-bib-0004","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/956","article-title":"Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine","volume":"19","author":"Okawa","year":"1998","journal-title":"Nat Genet."},{"key":"2024012713573239300_jbmr4550-bib-0005","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1007\/s004390050993","article-title":"Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL)","volume":"104","author":"Nakamura","year":"1999","journal-title":"Hum Genet."},{"key":"2024012713573239300_jbmr4550-bib-0006","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1016\/j.bone.2011.06.029","article-title":"Case report a patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene","volume":"49","author":"Saito","year":"2011","journal-title":"Bone."},{"key":"2024012713573239300_jbmr4550-bib-0007","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.ijscr.2016.08.038","article-title":"Extensive ossification of the paraspinal ligaments in a patient with vitamin D-resistant rickets: case report with literature review","volume":"27","author":"Hirao","year":"2016","journal-title":"Int J Surg Case Rep."},{"key":"2024012713573239300_jbmr4550-bib-0008","doi-asserted-by":"crossref","first-page":"115656","DOI":"10.1016\/j.bone.2020.115656","article-title":"Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization","volume":"142","author":"Maulding","year":"2021","journal-title":"Bone."},{"issue":"3","key":"2024012713573239300_jbmr4550-bib-0009","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1002\/jbmr.4487","article-title":"Musculoskeletal comorbidities and quality of life in ENPP1-deficient adults and the response of enthesopathy to enzyme replacement therapy in murine models","volume":"37","author":"Ferreira","year":"2021","journal-title":"J Bone Miner Res."},{"key":"2024012713573239300_jbmr4550-bib-0010","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/S0002-9440(10)63996-X","article-title":"PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification","volume":"158","author":"Rutsch","year":"2001","journal-title":"Am J Pathol."},{"key":"2024012713573239300_jbmr4550-bib-0011","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1002\/ajmg.a.30800","article-title":"Generalized arterial calcification of infancy: different clinical courses in two affected siblings","volume":"136","author":"Cheng","year":"2005","journal-title":"Am J Med Genet."},{"key":"2024012713573239300_jbmr4550-bib-0012","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/ncomms10006","article-title":"ENPP1-fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy","volume":"6","author":"Albright","year":"2015","journal-title":"Nat Commun."},{"key":"2024012713573239300_jbmr4550-bib-0013","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1002\/jbmr.4254","article-title":"Response of the ENPP1-deficient skeletal phenotype to oral phosphate supplementation and\/or enzyme replacement therapy: comparative studies in humans and mice","volume":"36","author":"Ferreira","year":"2021","journal-title":"J Bone Miner Res."},{"key":"2024012713573239300_jbmr4550-bib-0014","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1002\/jbmr.3938","article-title":"Clinical and biochemical phenotypes in a family with ENPP1 mutations","volume":"35","author":"Kotwal","year":"2020","journal-title":"J Bone Miner Res."},{"key":"2024012713573239300_jbmr4550-bib-0015","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1002\/jbmr.3911","article-title":"Human heterozygous ENPP1 deficiency is associated with early onset osteoporosis, a phenotype recapitulated in a mouse model of Enpp1 deficiency","volume":"35","author":"Oheim","year":"2020","journal-title":"J Bone Miner Res."},{"key":"2024012713573239300_jbmr4550-bib-0016","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1016\/j.jmoldx.2018.04.004","article-title":"Assessing the accuracy of variant detection in cost-effective gene panel testing by next-generation sequencing","volume":"20","author":"Fujiki","year":"2018","journal-title":"J Mol Diagn."},{"key":"2024012713573239300_jbmr4550-bib-0017","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods."},{"key":"2024012713573239300_jbmr4550-bib-0018","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat Protoc."},{"key":"2024012713573239300_jbmr4550-bib-0019","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat Methods."},{"issue":"6","key":"2024012713573239300_jbmr4550-bib-0020","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1007\/s00774-021-01250-1","article-title":"Clinical performance of a novel chemiluminescent enzyme immunoassay for FGF23","volume":"39","author":"Ito","year":"2021","journal-title":"J Bone Miner Metab."},{"issue":"1","key":"2024012713573239300_jbmr4550-bib-0021","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1007\/s00774-021-01258-7","article-title":"Performance evaluation of the new chemiluminescent intact FGF23 assay relative to the existing assay system","volume":"40","author":"Kato","year":"2022","journal-title":"J Bone Miner Metab."},{"key":"2024012713573239300_jbmr4550-bib-0022","doi-asserted-by":"crossref","first-page":"20206","DOI":"10.1073\/pnas.1319582110","article-title":"ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release","volume":"110","author":"Jansen","year":"2013","journal-title":"Proc Natl Acad Sci U S A."},{"key":"2024012713573239300_jbmr4550-bib-0023","doi-asserted-by":"crossref","first-page":"1985","DOI":"10.1161\/ATVBAHA.114.304017","article-title":"ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation\u2014brief report","volume":"34","author":"Jansen","year":"2014","journal-title":"Arterioscler Thromb Vasc Biol."},{"key":"2024012713573239300_jbmr4550-bib-0024","first-page":"1","article-title":"A reference range for plasma levels of inorganic pyrophosphate in children using the ATP sulfurylase method","volume":"107","author":"Bernhard","year":"2021","journal-title":"J Clin Endocrinol Metab."},{"key":"2024012713573239300_jbmr4550-bib-0025","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1093\/ndt\/gfp362","article-title":"Plasma pyrophosphate and vascular calcification in chronic kidney disease","volume":"25","author":"O'Neill","year":"2010","journal-title":"Nephrol Dial Transplant."},{"key":"2024012713573239300_jbmr4550-bib-0026","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature."},{"key":"2024012713573239300_jbmr4550-bib-0027","doi-asserted-by":"crossref","first-page":"493","DOI":"10.2188\/jea.JE20150268","article-title":"The Tohoku Medical Megabank project: design and mission","volume":"26","author":"Kuriyama","year":"2016","journal-title":"J Epidemiol."},{"key":"2024012713573239300_jbmr4550-bib-0028","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med."},{"key":"2024012713573239300_jbmr4550-bib-0029","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1148\/15.3.513","article-title":"Diffuse idiopathic skeletal hyperostosis (DISH): Forestier's disease with extraspinal manifestations","volume":"115","author":"Resnick","year":"1975","journal-title":"Radiology."},{"key":"2024012713573239300_jbmr4550-bib-0030","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1038\/nrrheum.2013.165","article-title":"Diffuse idiopathic skeletal hyperostosis: clinical features and pathogenic mechanisms","volume":"9","author":"Mader","year":"2013","journal-title":"Nat Rev Rheumatol."},{"key":"2024012713573239300_jbmr4550-bib-0031","doi-asserted-by":"crossref","first-page":"101527","DOI":"10.1016\/j.berh.2020.101527","article-title":"Diffuse idiopathic skeletal hyperostosis: etiology and clinical relevance","volume":"34","author":"Kuperus","year":"2020","journal-title":"Best Pract Res Clin Rheumatol."},{"key":"2024012713573239300_jbmr4550-bib-0032","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1038\/ng1221","article-title":"Mutations in ENPP1 are associated with \u201cidiopathic\u201d infantile arterial calcification","volume":"34","author":"Rutsch","year":"2003","journal-title":"Nat Genet."},{"key":"2024012713573239300_jbmr4550-bib-0033","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.1002\/humu.23057","article-title":"Effects of different variants in the ENPP1 gene on the functional properties of ectonucleotide pyrophosphatase\/phosphodiesterase family member 1","volume":"37","author":"Stella","year":"2016","journal-title":"Hum Mutat."},{"key":"2024012713573239300_jbmr4550-bib-0034","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1177\/0022034517744773","article-title":"Hypercementosis associated with ENPP1 mutations and GACI","volume":"97","author":"Thumbigere-Math","year":"2018","journal-title":"J Dent Res."},{"key":"2024012713573239300_jbmr4550-bib-0035","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1001\/archderm.1976.01630310056013","article-title":"Hypopigmentation with punctate keratosis of the palms and soles","volume":"112","author":"Cole","year":"1976","journal-title":"Arch Dermatol."},{"key":"2024012713573239300_jbmr4550-bib-0036","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1001\/archdermatol.2009.54","article-title":"Cole disease: Guttate hypopigmentation and punctate palmoplantar keratoderma","volume":"145","author":"Moore","year":"2009","journal-title":"Arch Dermatol."},{"key":"2024012713573239300_jbmr4550-bib-0037","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1016\/j.ajhg.2013.08.007","article-title":"Cole disease results from mutations in ENPP1","volume":"93","author":"Eytan","year":"2013","journal-title":"Am J Hum Genet."},{"key":"2024012713573239300_jbmr4550-bib-0038","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.ajhg.2011.11.020","article-title":"Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6","volume":"90","author":"Nitschke","year":"2012","journal-title":"Am J Hum Genet."},{"key":"2024012713573239300_jbmr4550-bib-0039","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/76102","article-title":"Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum","volume":"25","author":"Le Saux","year":"2000","journal-title":"Nat Genet."},{"key":"2024012713573239300_jbmr4550-bib-0040","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.bone.2015.05.040","article-title":"Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets","volume":"79","author":"Capelli","year":"2015","journal-title":"Bone."},{"key":"2024012713573239300_jbmr4550-bib-0041","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1002\/jbmr.340","article-title":"A clinician's guide to X-linked hypophosphatemia","volume":"26","author":"Carpenter","year":"2011","journal-title":"J Bone Miner Res."},{"key":"2024012713573239300_jbmr4550-bib-0042","doi-asserted-by":"crossref","first-page":"221","DOI":"10.3109\/17453679308994575","article-title":"Enthesopathy as the presenting feature of X-linked hypophosphatemia: a case report","volume":"64","author":"Chalmers","year":"1993","journal-title":"Acta Orthop Scand."},{"key":"2024012713573239300_jbmr4550-bib-0043","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1148\/radiology.171.2.2539609","article-title":"X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features","volume":"171","author":"Hardy","year":"1989","journal-title":"Radiology."},{"key":"2024012713573239300_jbmr4550-bib-0044","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/s00223-009-9270-6","article-title":"Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice","volume":"85","author":"Liang","year":"2009","journal-title":"Calcif Tissue Int."},{"key":"2024012713573239300_jbmr4550-bib-0045","first-page":"52","article-title":"The enthesopathy of vitamin D-resistant osteomalacia in adults","volume":"57","author":"Ramonda","year":"2005","journal-title":"Reumatismo."},{"key":"2024012713573239300_jbmr4550-bib-0046","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1097\/00005792-198911000-00002","article-title":"X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults","volume":"68","author":"Reid","year":"1989","journal-title":"Medicine (Baltimore)."},{"key":"2024012713573239300_jbmr4550-bib-0047","doi-asserted-by":"crossref","first-page":"E3682","DOI":"10.1210\/clinem\/dgab282","article-title":"Incidence of complications in 25 adult patients with X-linked hypophosphatemia","volume":"106","author":"Kato","year":"2021","journal-title":"J Clin Endocrinol Metab."},{"key":"2024012713573239300_jbmr4550-bib-0048","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pone.0174881","article-title":"Serum biomarkers in patients with ossification of the posterior longitudinal ligament (OPLL): inflammation in OPLL","volume":"12","author":"Kawaguchi","year":"2017","journal-title":"PLoS One."},{"key":"2024012713573239300_jbmr4550-bib-0049","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1177\/2192568218801015","article-title":"Increase of the serum FGF-23 in ossification of the posterior longitudinal ligament","volume":"9","author":"Kawaguchi","year":"2019","journal-title":"Glob Spine J."},{"key":"2024012713573239300_jbmr4550-bib-0050","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1016\/j.ekir.2019.05.004","article-title":"Description of 5 novel SLC34A3\/NPT2c mutations causing hereditary hypophosphatemic rickets with hypercalciuria","volume":"4","author":"Chen","year":"2019","journal-title":"Kidney Int Rep."},{"key":"2024012713573239300_jbmr4550-bib-0051","doi-asserted-by":"crossref","first-page":"9","DOI":"10.3171\/2010.12.FOCUS10271","article-title":"Ossification of the posterior longitudinal ligament: genetics and pathophysiology","volume":"30","author":"Stapleton","year":"2011","journal-title":"Neurosurg Focus."},{"key":"2024012713573239300_jbmr4550-bib-0052","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1038\/ki.2015.290","article-title":"Inflammation and functional iron deficiency regulate fibroblast growth factor 23 production","volume":"89","author":"David","year":"2016","journal-title":"Kidney Int."}],"container-title":["Journal of Bone and Mineral Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jbmr.4550","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jbmr.4550","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/37\/6\/1125\/55457472\/jbmr4550.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/37\/6\/1125\/55457472\/jbmr4550.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T11:08:47Z","timestamp":1710328127000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmr\/article\/37\/6\/1125-1135\/7516666"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,1]]},"references-count":52,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022,3,26]]},"published-print":{"date-parts":[[2020,12,1]]}},"URL":"https:\/\/doi.org\/10.1002\/jbmr.4550","relation":{"has-review":[{"id-type":"doi","id":"10.1002\/JBMR.4550\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4550\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4550\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4550\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4550\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4550\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4550\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0884-0431","1523-4681"],"issn-type":[{"value":"0884-0431","type":"print"},{"value":"1523-4681","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020,12,1]]},"published":{"date-parts":[[2020,12,1]]},"assertion":[{"value":"2021-12-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}