{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T20:01:00Z","timestamp":1791489660002,"version":"4.3.4"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2019,9,5]],"date-time":"2019-09-05T00:00:00Z","timestamp":1567641600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,9,5]],"date-time":"2019-09-05T00:00:00Z","timestamp":1567641600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"National Science and Technology Major Projects for Major New Drugs Innovation and Development","award":["2008ZX09312-016"],"award-info":[{"award-number":["2008ZX09312-016"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81070687"],"award-info":[{"award-number":["81070687"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81170805"],"award-info":[{"award-number":["81170805"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81670714"],"award-info":[{"award-number":["81670714"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"the Beijing Natural Science Foundation","award":["7121012"],"award-info":[{"award-number":["7121012"]}]},{"name":"the Scientific Research Foundation of Beijing Medical Development","award":["2007-3029"],"award-info":[{"award-number":["2007-3029"]}]},{"name":"National Key Program of Clinical Science","award":["WBYZ2011-873"],"award-info":[{"award-number":["WBYZ2011-873"]}]},{"name":"the CAMS Innovation Fund for Medical Sciences","award":["2016-I2M-3-003"],"award-info":[{"award-number":["2016-I2M-3-003"]}]},{"name":"International Research Scientist Development Award","award":["K01TW009995"],"award-info":[{"award-number":["K01TW009995"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Calcif Tissue Int"],"published-print":{"date-parts":[[2019,11]]},"DOI":"10.1007\/s00223-019-00597-y","type":"journal-article","created":{"date-parts":[[2019,9,5]],"date-time":"2019-09-05T07:03:18Z","timestamp":1567666998000},"page":"476-486","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Earlier Onset in Autosomal Dominant Hypophosphatemic Rickets of R179 than R176 Mutations in Fibroblast Growth Factor 23: Report of 20 Chinese Cases and Review of the Literature"],"prefix":"10.1007","volume":"105","author":[{"given":"Chang","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhen","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ou","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoping","family":"Xing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelyn","family":"Hsieh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiji","family":"Fukumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7768-5536","authenticated-orcid":false,"given":"Weibo","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,9,5]]},"reference":[{"key":"597_CR1","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1210\/jcem.82.2.3765","volume":"82","author":"MJ Econs","year":"1997","unstructured":"Econs MJ, McEnery PT (1997) Autosomal dominant hypophosphatemic rickets\/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. J Clin Endocrinol Metab 82:674\u2013681","journal-title":"J Clin Endocrinol Metab"},{"key":"597_CR2","doi-asserted-by":"publisher","first-page":"2653","DOI":"10.1172\/JCI119809","volume":"100","author":"MJ Econs","year":"1997","unstructured":"Econs MJ, McEnery PT, Lennon F, Speer MC (1997) Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13. J Clin Invest 100:2653\u20132657","journal-title":"J Clin Invest"},{"key":"597_CR3","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1359\/jbmr.070107","volume":"22","author":"EA Imel","year":"2007","unstructured":"Imel EA, Hui SL, Econs MJ (2007) FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. J Bone Miner Res 22:520\u2013526","journal-title":"J Bone Miner Res"},{"key":"597_CR4","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1038\/81664","volume":"26","author":"A Consortium","year":"2000","unstructured":"Consortium A (2000) Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet 26:345\u2013348","journal-title":"Nat Genet"},{"key":"597_CR5","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1007\/s00774-009-0111-5","volume":"28","author":"M Gribaa","year":"2010","unstructured":"Gribaa M, Younes M, Bouyacoub Y, Korbaa W, Ben CI, Touzi M, Adala L, Mamay O, Bergaoui N, Saad A (2010) An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation. J Bone Miner Metab 28:111\u2013115","journal-title":"J Bone Miner Metab"},{"key":"597_CR6","doi-asserted-by":"publisher","first-page":"9843","DOI":"10.1074\/jbc.M210490200","volume":"278","author":"XY Bai","year":"2003","unstructured":"Bai XY, Miao D, Goltzman D, Karaplis AC (2003) The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency. J Biol Chem 278:9843\u20139849","journal-title":"J Biol Chem"},{"key":"597_CR7","doi-asserted-by":"publisher","first-page":"2079","DOI":"10.1046\/j.1523-1755.2001.00064.x","volume":"60","author":"KE White","year":"2001","unstructured":"White KE, Carn G, Lorenz-Depiereux B, Benet-Pages A, Strom TM, Econs MJ (2001) Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23. Kidney Int 60:2079\u20132086","journal-title":"Kidney Int"},{"key":"597_CR8","first-page":"287","volume":"7","author":"JW Bianchine","year":"1971","unstructured":"Bianchine JW, Stambler AA, Harrison HE (1971) Familial hypophosphatemic rickets showing autosomal dominant inheritance. Birth Defects Orig Artic Ser 7:287\u2013295","journal-title":"Birth Defects Orig Artic Ser"},{"key":"597_CR9","doi-asserted-by":"publisher","first-page":"640","DOI":"10.1016\/j.bone.2012.11.012","volume":"52","author":"M Seton","year":"2013","unstructured":"Seton M, J\u00fcppner H (2013) Autosomal dominant hypophosphatemic rickets in an 85\u00a0year old woman: characterization of her disease from infancy through adulthood. Bone 52:640\u2013643","journal-title":"Bone"},{"key":"597_CR10","first-page":"391","volume":"13","author":"S Tournis","year":"2013","unstructured":"Tournis S, Koromila T, Chatzistamatas N, Droggaris M, Zafeiris C, Makris K, Marketou H, Papaioannou N, Kollia P, Gazi S (2013) Hip fracture leading to the diagnosis of autosomal dominant hypophosphatemic rickets. A case report. J Musculoskel Neuron 13:391\u2013393","journal-title":"J Musculoskel Neuron"},{"key":"597_CR11","first-page":"305","volume":"55","author":"K Kruse","year":"2001","unstructured":"Kruse K, Woelfel D, Strom TM (2001) Loss of renal phosphate wasting in a child with autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation. Horm Res 55:305\u2013308","journal-title":"Horm Res"},{"key":"597_CR12","first-page":"103","volume":"64","author":"AL Negri","year":"2004","unstructured":"Negri AL, Negrotti T, Alonso G, Pasqualini T (2004) Different forms of clinical presentation of an autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation in one family. Medicina 64:103\u2013106","journal-title":"Medicina"},{"key":"597_CR13","doi-asserted-by":"publisher","first-page":"3388","DOI":"10.1210\/jc.2015-2391","volume":"100","author":"K Kapelari","year":"2015","unstructured":"Kapelari K, K\u00f6hle J, Kotzot D, H\u00f6gler W (2015) Iron supplementation associated with loss of phenotype in autosomal dominant hypophosphatemic rickets. J Clin Endocrinol Metab 100:3388\u20133392","journal-title":"J Clin Endocrinol Metab"},{"key":"597_CR14","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1007\/s00774-011-0285-5","volume":"30","author":"Y Sun","year":"2012","unstructured":"Sun Y, Wang O, Xia W, Jiang Y, Li M, Xing X, Hu Y, Liu H, Meng X, Zhou X (2012) FGF23 analysis of a Chinese family with autosomal dominant hypophosphatemic rickets. J Bone Miner Metab 30:78\u201384","journal-title":"J Bone Miner Metab"},{"key":"597_CR15","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1016\/S0140-6736(75)92736-1","volume":"2","author":"RJ Walton","year":"1975","unstructured":"Walton RJ, Bijvoet OL (1975) Nomogram for derivation of renal threshold phosphate concentration. Lancet 2:309\u2013310","journal-title":"Lancet"},{"key":"597_CR16","doi-asserted-by":"publisher","first-page":"1967","DOI":"10.1002\/jbmr.1642","volume":"27","author":"Y Jiang","year":"2012","unstructured":"Jiang Y, Xia W, Xing X, Silva BC, Li M, Wang O, Zhang H, Li F, Jing H, Zhong D, Jin J, Gao P, Zhou L, Qi F, Yu W, Bilezikian JP, Meng X (2012) Tumor-induced osteomalacia: an important cause of adult-onset hypophosphatemic osteomalacia in China: report of 39 cases and review of the literature. J Bone Miner Res 27:1967\u20131975","journal-title":"J Bone Miner Res"},{"key":"597_CR17","doi-asserted-by":"publisher","first-page":"1227","DOI":"10.1359\/jbmr.2003.18.7.1227","volume":"18","author":"TJ Weber","year":"2003","unstructured":"Weber TJ, Liu S, Indridason OS, Quarles LD (2003) Serum FGF23 levels in normal and disordered phosphorus homeostasis[J]. J Bone Miner Res 18:1227\u20131234","journal-title":"J Bone Miner Res"},{"key":"597_CR18","first-page":"487","volume":"47","author":"H Li","year":"2009","unstructured":"Li H, Ji C, Zong X, Zhang Y (2009) Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18\u00a0years [J]. Chin J Pediatr 47:487\u2013492 (In Chinese)","journal-title":"Chin J Pediatr"},{"key":"597_CR19","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1016\/j.bone.2004.04.002","volume":"35","author":"A Benet-Pag\u00e8s","year":"2004","unstructured":"Benet-Pag\u00e8s A, Lorenz-Depiereux B, Zischka H, White KE, Econs MJ, Strom TM (2004) FGF23 is processed by proprotein convertases but not by PHEX. Bone 35:455\u2013462","journal-title":"Bone"},{"key":"597_CR20","doi-asserted-by":"publisher","first-page":"18370","DOI":"10.1074\/jbc.M602469200","volume":"281","author":"K Kato","year":"2006","unstructured":"Kato K, Jeanneau C, Tarp MA, Benet-Pag\u00e8s A, Lorenz-Depiereux B, Bennett EP, Mandel U, Strom TM, Polypeptide Clausen H (2006) GalNAc-transferase T3 and familial tumoral calcinosis secretion of fibroblast growth factor 23 requires O-glycosylation. J Biol Chem 281:18370\u201318377","journal-title":"J Biol Chem"},{"key":"597_CR21","doi-asserted-by":"publisher","first-page":"5520","DOI":"10.1073\/pnas.1402218111","volume":"111","author":"VS Tagliabracci","year":"2014","unstructured":"Tagliabracci VS, Engel JL, Wiley SE, Xiao J, Gonzalez DJ, Nidumanda Appaiah H, Koller A, Nizet V, White KE, Dixon JE (2014) Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysis. Proc Natl Acad Sci USA 111:5520\u20135525","journal-title":"Proc Natl Acad Sci USA"},{"key":"597_CR22","doi-asserted-by":"publisher","first-page":"770","DOI":"10.1038\/nature05315","volume":"444","author":"I Urakawa","year":"2006","unstructured":"Urakawa I, Yamazaki Y, Shimada T, Iijima K, Hasegawa H, Okawa K, Fujita T, Fukumoto S, Yamashita T (2006) Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature 444:770\u2013774","journal-title":"Nature"},{"issue":"7689","key":"597_CR23","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1038\/nature25451","volume":"553","author":"G Chen","year":"2018","unstructured":"Chen G, Liu Y, Goetz R, Fu L, Jayaraman S, Hu MC, Moe OW, Liang G, Li X, Mohammadi M (2018) \u03b1-Klotho is a non-enzymatic molecular scaffold for FGF23 hormone signalling. Nature 553(7689):461","journal-title":"Nature"},{"key":"597_CR24","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1007\/s00223-012-9651-0","volume":"91","author":"JM Pettifor","year":"2012","unstructured":"Pettifor JM, Thandrayen K (2012) Hypophosphatemic rickets: unraveling the role of FGF23. Calcif Tissue Int 91:297\u2013306","journal-title":"Calcif Tissue Int"},{"key":"597_CR25","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1359\/JBMR.0301264","volume":"19","author":"T Shimada","year":"2004","unstructured":"Shimada T, Hasegawa H, Yamazaki Y, Muto T, Hino R, Takeuchi Y, Fujita T, Nakahara K, Fukumoto S, Yamashita T (2004) FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res 19:429\u2013435","journal-title":"J Bone Miner Res"},{"key":"597_CR26","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1002\/jbmr.2049","volume":"29","author":"EL Clinkenbeard","year":"2014","unstructured":"Clinkenbeard EL, Farrow EG, Summers LJ, Cass TA, Roberts JL, Bayt CA, Lahm T, Albrecht M, Allen MR, Peacock M, White KE (2014) Neonatal iron deficiency causes abnormal phosphate metabolism by elevating FGF23 in normal and ADHR Mice. J Bone Miner Res 29:361\u2013369","journal-title":"J Bone Miner Res"},{"key":"597_CR27","doi-asserted-by":"publisher","first-page":"1146","DOI":"10.1073\/pnas.1110905108","volume":"108","author":"EG Farrow","year":"2011","unstructured":"Farrow EG, Yu X, Summers LJ, Davis SI, Fleet JC, Allen MR, Robling AG, Stayrook KR, Jideonwo V, Magers MJ, Garringer HJ, Vidal R, Chan RJ, Goodwin CB, Hui SL, Peacock M, White KE (2011) Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice. Proc Natl Acad Sci USA 108:1146\u20131155","journal-title":"Proc Natl Acad Sci USA"},{"key":"597_CR28","doi-asserted-by":"publisher","first-page":"3541","DOI":"10.1210\/jc.2011-1239","volume":"96","author":"EA Imel","year":"2011","unstructured":"Imel EA, Peacock M, Gray AK, Padgett LR, Hui SL, Econs MJ (2011) Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans. J Clin Endocrinol Metab 96:3541\u20133549","journal-title":"J Clin Endocrinol Metab"},{"key":"597_CR29","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1258\/000456307781646102","volume":"44","author":"BH Durham","year":"2007","unstructured":"Durham BH, Joseph F, Bailey LM, Fraser WD (2007) The association of circulating ferritin with serum concentrations of fibroblast growth factor-23 measured by three commercial assays. Ann Clin Biochem 44:463\u2013466","journal-title":"Ann Clin Biochem"},{"key":"597_CR30","doi-asserted-by":"publisher","first-page":"3179","DOI":"10.1210\/endo.143.8.8795","volume":"143","author":"T Shimada","year":"2002","unstructured":"Shimada T, Muto T, Urakawa I, Yoneya T, Yamazaki Y, Okawa K, Takeuchi Y, Fujita T, Fukumoto S, Yamashita T (2002) Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo. Endocrinology 143:3179\u20133182","journal-title":"Endocrinology"},{"key":"597_CR31","doi-asserted-by":"publisher","first-page":"2009","DOI":"10.1681\/ASN.2008121258","volume":"20","author":"N Carrillo-L\u00f3pez","year":"2009","unstructured":"Carrillo-L\u00f3pez N, Rom\u00e1n-Garc\u00eda P, Rodr\u00edguez-Rebollar A, Fern\u00e1ndez-Mart\u00edn JL, Naves-D\u00edaz M, Cannata-And\u00eda JB (2009) Indirect regulation of PTH by estrogens may require FGF23. J Am Soc Nephrol 20:2009\u20132017","journal-title":"J Am Soc Nephrol"},{"key":"597_CR32","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1053\/j.ajkd.2011.06.011","volume":"58","author":"JH Ix","year":"2011","unstructured":"Ix JH, Chonchol M, Laughlin GA, Shlipak MG, Whooley MA (2011) Relation of sex and estrogen therapy to serum fibroblast growth factor 23, serum phosphorus, and urine phosphorus: the heart and soul study. Am J Kidney Dis 58:737\u2013745","journal-title":"Am J Kidney Dis"},{"key":"597_CR33","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1159\/000443988","volume":"85","author":"E Holmlund-Suila","year":"2016","unstructured":"Holmlund-Suila E, Viljakainen H, Ljunggren \u00d6, Hytinantti T, Andersson S, M\u00e4kitie O (2016) Fibroblast growth factor 23 concentrations reflect sex differences in mineral metabolism and growth in early infancy. Horm Res Paediat 85:232\u2013241","journal-title":"Horm Res Paediat"},{"key":"597_CR34","doi-asserted-by":"publisher","first-page":"4526","DOI":"10.1210\/jc.2017-01211","volume":"102","author":"E Holmlund-Suila","year":"2017","unstructured":"Holmlund-Suila E, Enlund-Cerullo M, Valkama SL, Hauta-Alus H, Rosendahl J, Helve O, Hytinantti T, Viljakainen H, Andersson S, M\u00e4kitie O (2017) Sex and iron modify fibroblast growth factor 23 (FGF23) concentration in 1-year-old children. J Clin Endocrinol Metab 102:4526\u20134533","journal-title":"J Clin Endocrinol Metab"},{"key":"597_CR35","doi-asserted-by":"publisher","first-page":"2345","DOI":"10.1007\/s00198-016-3543-5","volume":"27","author":"D El-Maouche","year":"2016","unstructured":"El-Maouche D, Dumitrescu CE, Andreopoulou P, Gafni RI, Brillante BA, Bhattacharyya N, Fedarko NS, Collins MT (2016) Stability and degradation of fibroblast growth factor 23 (FGF23): the effect of time and temperature and assay type. Osteoporosis Int 27:2345\u20132353","journal-title":"Osteoporosis Int"}],"container-title":["Calcified Tissue International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-019-00597-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00223-019-00597-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-019-00597-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,3]],"date-time":"2020-09-03T23:29:04Z","timestamp":1599175744000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00223-019-00597-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9,5]]},"references-count":35,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["597"],"URL":"https:\/\/doi.org\/10.1007\/s00223-019-00597-y","relation":{},"ISSN":["0171-967X","1432-0827"],"issn-type":[{"value":"0171-967X","type":"print"},{"value":"1432-0827","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,9,5]]},"assertion":[{"value":"24 September 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 August 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 September 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"Chang Liu, Zhen Zhao, Ou Wang, Mei Lia, Xiaoping Xing, Evelyn Hsieh, Seiji Fukumoto,Yan Jiang, and Weibo Xia declare that they don\u2019t have any conflicts of interest in this work.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This study was approved by the Department of Scientific Research of PUMCH. All participants provided written informed consents.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human and Animal Rights and Informed Consent"}}]}}