{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T11:20:25Z","timestamp":1761823225686},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cases Journal"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Hypophosphatasia is a congenital disease characterized by deficiency of serum and tissue non-specific alkaline phosphatase activity. The disease occurs due to mutations in the liver\/bone\/kidney alkaline phosphatase gene. Six clinical forms of hypophosphatasia are recognized. Systemic symptoms of the disease are respiratory complications, premature craniosynostosis, widespread demineralization and rachitic changes in the metaphases, stress fractures, chondrocalcinosis and osteoarthropathy. Characteristic dental symptoms are premature deciduous teeth loss, premature exfoliation of fully rooted primary teeth, severe dental caries and alveolar bone loss. This clinical report describes the prosthetic rehabilitation of a twenty two year-old Turkish female patient with hypophosphatasia.<\/jats:p>","DOI":"10.1186\/1757-1626-2-7626","type":"journal-article","created":{"date-parts":[[2009,11,24]],"date-time":"2009-11-24T11:42:49Z","timestamp":1259062969000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Prosthetic rehabilitation of hypophosphatasia: a case report"],"prefix":"10.1186","volume":"2","author":[{"given":"Bora","family":"Ba\u011fi\u015f","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esra","family":"Baltacio\u011flu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elif","family":"Aydo\u011fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ev\u015fen","family":"Tamam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,12,12]]},"reference":[{"key":"1583_CR1","first-page":"35","volume":"56","author":"B Atasay","year":"2002","unstructured":"Atasay B, G\u00fcnlemez A, Kizilate\u015f S\u00dc, Berbero\u011flu M, Arsan S: Perinatal lethal form of hypophosphatasia. Journal of Ankara Medical School. 2002, 56: 35-38.","journal-title":"Journal of Ankara Medical School"},{"key":"1583_CR2","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1186\/1750-1172-2-40","volume":"2","author":"E Mornet","year":"2007","unstructured":"Mornet E: Hypophosphatasia. Orphanet J Rare Dis. 2007, 2: 40-10.1186\/1750-1172-2-40.","journal-title":"Orphanet J Rare Dis"},{"key":"1583_CR3","doi-asserted-by":"publisher","first-page":"5703","DOI":"10.1021\/bi00392a019","volume":"26","author":"R Jemmerson","year":"1987","unstructured":"Jemmerson R, Low MG: Phosphatidylinositol anchor of HeLa cell alkaline phosphatase. Biochemistry. 1987, 26: 5703-5709. 10.1021\/bi00392a019.","journal-title":"Biochemistry"},{"key":"1583_CR4","doi-asserted-by":"publisher","first-page":"9445","DOI":"10.1073\/pnas.142063399","volume":"99","author":"L Hessle","year":"2002","unstructured":"Hessle L, Johnson KA, Anderson HC, Narisawa S, Sali A, Goding JW, Terkeltaub R, Millan JL: Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization. Proc Natl Acad Sci USA. 2002, 99: 9445-9449. 10.1073\/pnas.142063399.","journal-title":"Proc Natl Acad Sci USA"},{"key":"1583_CR5","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1111\/j.1432-1033.1991.tb16414.x","volume":"202","author":"MF Hoylaerts","year":"1991","unstructured":"Hoylaerts MF, Millan JL: Site-directed mutagenesis and epitopemapped monoclonal antibodies define a catalytically important conformational difference between human placental and germ cell alkaline phosphatase. Eur J Biochem. 1991, 202: 605-616. 10.1111\/j.1432-1033.1991.tb16414.x.","journal-title":"Eur J Biochem"},{"key":"1583_CR6","doi-asserted-by":"publisher","first-page":"31171","DOI":"10.1074\/jbc.M102788200","volume":"276","author":"E Mornet","year":"2001","unstructured":"Mornet E, Stura E, Lia-Baldini AS, Stigbrand T, Menez A, Le Du MH: Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization. J Biol Chem. 2001, 276: 31171-31178. 10.1074\/jbc.M102788200.","journal-title":"J Biol Chem"},{"key":"1583_CR7","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1007\/BF02026677","volume":"21","author":"M Shohat","year":"1991","unstructured":"Shohat M, Rimoin DL, Gruber HE, Lachman RS: Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings. Pediatr Radiol. 1991, 21: 421-427. 10.1007\/BF02026677.","journal-title":"Pediatr Radiol"},{"key":"1583_CR8","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1002\/(SICI)1096-8628(19991029)86:5<434::AID-AJMG8>3.0.CO;2-C","volume":"86","author":"RM Pauli","year":"1999","unstructured":"Pauli RM, Modaff P, Sipes SL, Whyte MP: Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. Am J Med Genet. 1999, 86: 434-438. 10.1002\/(SICI)1096-8628(19991029)86:5<434::AID-AJMG8>3.0.CO;2-C.","journal-title":"Am J Med Genet"},{"key":"1583_CR9","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1002\/(SICI)1096-8628(19991029)86:5<410::AID-AJMG3>3.0.CO;2-0","volume":"86","author":"CA Moore","year":"1999","unstructured":"Moore CA, Curry CJ, Henthorn PS, Smith JA, Smith JC, O'Lauge P, Coburn SP, Weaver DD, Whyte MP: Mild autosomal dominant hypophosphatasia: in utero presentation in two families. Am J Med Genet. 1999, 86: 410-415. 10.1002\/(SICI)1096-8628(19991029)86:5<410::AID-AJMG3>3.0.CO;2-0.","journal-title":"Am J Med Genet"},{"key":"1583_CR10","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1016\/S0022-3476(86)80773-9","volume":"108","author":"MP Whyte","year":"1986","unstructured":"Whyte MP, Magill HL, Fallon MD, Herrod HG: Infantile hypophosphatasia: normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase. J Pediatr. 1986, 108: 82-88. 10.1016\/S0022-3476(86)80773-9.","journal-title":"J Pediatr"},{"key":"1583_CR11","unstructured":"Cole D: 2003, Academic Press"},{"key":"1583_CR12","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1097\/00005792-198401000-00002","volume":"63","author":"MD Fallon","year":"1984","unstructured":"Fallon MD, Teitelbaum SL, Weinstein RS, Goldfischer S, Brown DM, Whyte MP: Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. Medicine (Baltimore). 1984, 63: 12-24.","journal-title":"Medicine (Baltimore)"},{"key":"1583_CR13","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1097\/00005792-197909000-00001","volume":"58","author":"MP Whyte","year":"1979","unstructured":"Whyte MP, Teitelbaum SL, Murphy WA, Bergfeld MA, Avioli LV: Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature. Medicine (Baltimore). 1979, 58: 329-347.","journal-title":"Medicine (Baltimore)"},{"key":"1583_CR14","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1016\/0002-9343(82)90474-0","volume":"72","author":"MP Whyte","year":"1982","unstructured":"Whyte MP, Murphy WA, Fallon MD: Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. Am J Med. 1982, 72: 631-641. 10.1016\/0002-9343(82)90474-0.","journal-title":"Am J Med"},{"key":"1583_CR15","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1016\/0030-4220(73)90028-5","volume":"35","author":"J Beumer 3rd","year":"1973","unstructured":"Beumer J, Trowbridge HO, Silverman S, Eisenberg E: Childhood hypophosphatasia and the premature loss of teeth. A clinical and laboratory study of seven cases. Oral Surg Oral Med Oral Pathol. 1973, 35: 631-640. 10.1016\/0030-4220(73)90028-5.","journal-title":"Oral Surg Oral Med Oral Pathol"},{"key":"1583_CR16","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1034\/j.1600-0722.2000.108003189.x","volume":"108","author":"JCC Hu","year":"2000","unstructured":"Hu JCC, Plaetke R, Mornet E, Zhang CH, Sun XL, Thomas HF: Characterization of a family with dominant hypophosphataisa. Eur J Oral Scie. 2000, 108: 189-194. 10.1034\/j.1600-0722.2000.108003189.x.","journal-title":"Eur J Oral Scie"}],"container-title":["Cases Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1757-1626-2-7626.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T20:10:35Z","timestamp":1630613435000},"score":1,"resource":{"primary":{"URL":"https:\/\/casesjournal.biomedcentral.com\/articles\/10.1186\/1757-1626-2-7626"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["1583"],"URL":"https:\/\/doi.org\/10.1186\/1757-1626-2-7626","relation":{},"ISSN":["1757-1626"],"issn-type":[{"value":"1757-1626","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,12]]},"assertion":[{"value":"29 July 2008","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 September 2008","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 December 2008","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"7626"}}