{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T17:23:18Z","timestamp":1785259398794,"version":"3.55.0"},"reference-count":28,"publisher":"Archives of Endocrinology and Metabolism","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"DOI":"10.20945\/2359-3997000000108","type":"journal-article","created":{"date-parts":[[2019,3,11]],"date-time":"2019-03-11T17:44:31Z","timestamp":1552326271000},"page":"89-93","source":"Crossref","is-referenced-by-count":9,"title":["A rare mutation in hypophosphatasia: a case report of adult form and review of the literature"],"prefix":"10.20945","volume":"63","author":[{"given":"Francisco","family":"Galeano-Valle","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime","family":"Vengoechea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodolfo J.","family":"Galindo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"8510","published-online":{"date-parts":[[2019,2]]},"reference":[{"issue":"4","key":"key20190311134425_B1","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/nrendo.2016.14","article-title":"Hypophosphatasia \u2013 aetiology, nosology, pathogenesis, diagnosis and treatment","volume":"12","author":"Whyte","year":"2016","unstructured":"1. Whyte MP. Hypophosphatasia \u2013 aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2016;12(4):233-46.","journal-title":"Nat Rev Endocrinol"},{"key":"key20190311134425_B2","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.bone.2015.02.022","article-title":"Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients","volume":"75","author":"Whyte","year":"2015","unstructured":"2. Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC, et al. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone. 2015;75:229-39.","journal-title":"Bone"},{"issue":"3","key":"key20190311134425_B3","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1111\/j.1469-1809.2011.00642.x","article-title":"A molecular-based estimation of the prevalence of hypophosphatasia in the European population","volume":"75","author":"Mornet","year":"2011","unstructured":"3. Mornet E, Yvard A, Taillandier A, Fauvert D, Simon-Bouy B. A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann. Hum. Genet. 2011;75(3):439-45.","journal-title":"Ann. Hum. Genet"},{"issue":"2","key":"key20190311134425_B4","doi-asserted-by":"crossref","first-page":"230","DOI":"10.11138\/ccmbm\/2017.14.1.230","article-title":"Hypophosphatasia: clinical manifestation and burden of disease in adult patients","volume":"14","author":"Conti","year":"2017","unstructured":"4. Conti F, Ciullini L, Pugliese G. Hypophosphatasia: clinical manifestation and burden of disease in adult patients. Clin Cases Miner Bone Metab. 2017;14(2):230-4.","journal-title":"Clin Cases Miner Bone Metab"},{"key":"key20190311134425_B5","doi-asserted-by":"crossref","first-page":"5S71","DOI":"10.1016\/S0929-693X(18)30018-6","article-title":"Adult hypophosphatasia","volume":"24","author":"Briot","year":"2017","unstructured":"5. Briot K, Roux C. Adult hypophosphatasia. Arch Pediatr. 2017;24:5S71-5.","journal-title":"Arch Pediatr"},{"key":"key20190311134425_B6","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.bone.2017.02.011","article-title":"Hypophosphatasia: an overview for 2017","volume":"102","author":"Whyte","year":"2017","unstructured":"6. Whyte MP. Hypophosphatasia: an overview for 2017. Bone. 2017;102:15-25.","journal-title":"Bone"},{"key":"key20190311134425_B7","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1001\/archpedi.1948.02030020840003","article-title":"Hypophosphatasia: a new developmental anomaly","volume":"75","author":"Rathbun","year":"1948","unstructured":"7. Rathbun JC. Hypophosphatasia: a new developmental anomaly. Am J Dis Child. 1948:75;822-31.","journal-title":"Am J Dis Child"},{"issue":"20","key":"key20190311134425_B8","doi-asserted-by":"crossref","first-page":"7666","DOI":"10.1073\/pnas.85.20.7666","article-title":"A missense mutation in the human liver\/bone\/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia","volume":"85","author":"Weiss","year":"1988","unstructured":"8. Weiss MJ, Cole DE, Ray K, Whyte MP, Lafferty MA, Mulivor RA, et al. A missense mutation in the human liver\/bone\/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci U S A. 1988;85(20):7666-9.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"key20190311134425_B9","doi-asserted-by":"crossref","DOI":"10.1002\/3527608060","volume-title":"Mammalian alkaline phosphatases: from biology to applications in medicine and biotechnology","author":"Millan","year":"2006","unstructured":"9. Millan JL. Mammalian alkaline phosphatases: from biology to applications in medicine and biotechnology. Weinheim, Germany: Wiley-VCH; 2006."},{"issue":"4 Pt 1","key":"key20190311134425_B10","first-page":"G419","article-title":"Hepatic clearance of rat plasma intestinal alkaline phosphatase","volume":"247","author":"Young","year":"1984","unstructured":"10. Young GP, Rose IS, Cropper S, Seetharam S, Alpers DH. Hepatic clearance of rat plasma intestinal alkaline phosphatase. Am J Physiol. 1984;247(4 Pt 1):G419-26.","journal-title":"Am J Physiol"},{"key":"key20190311134425_B11","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/B978-0-12-387829-8.00022-6","volume-title":"Genetics of bone biology and skeletal disease","author":"Whyte","year":"2013","unstructured":"11. Whyte MP. Hypophosphatasia. Chapter 22. In: Thakker RV, Whyte MP, Eisman J, Igarashi T, editors. Genetics of bone biology and skeletal disease. 1st ed. London, UK: Academic Press; 2013. p. 337-60.","edition":"1st ed"},{"issue":"1","key":"key20190311134425_B12","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.bone.2013.01.024","article-title":"Clinical spectrum of hypophosphatasia diagnosed in adults","volume":"54","author":"Berkseth","year":"2013","unstructured":"12. Berkseth KE, Tebben PJ, Drake MT, Hefferan TE, Jewison DE, Wermers RA. Clinical spectrum of hypophosphatasia diagnosed in adults. Bone. 2013;54(1):21-7.","journal-title":"Bone"},{"issue":"10","key":"key20190311134425_B13","doi-asserted-by":"crossref","first-page":"1522","DOI":"10.1016\/j.metabol.2016.07.006","article-title":"Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys","volume":"65","author":"Weber","year":"2016","unstructured":"13. Weber TJ, Sawyer EK, Moseley S, Odrljin T, Kishnani PS. Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys. Metabolism. 2016;65(10):1522-30.","journal-title":"Metabolism"},{"issue":"9","key":"key20190311134425_B14","doi-asserted-by":"crossref","first-page":"2653","DOI":"10.1007\/s00198-017-4087-z","article-title":"Clinical, radiographic and biochemical characteristics of adult hypophosphatasia","volume":"28","author":"Schmidt","year":"2017","unstructured":"14. Schmidt T, Mussawy H, Rolvien T, Hawellek T, Hubert J, R\u00fcther W, et al. Clinical, radiographic and biochemical characteristics of adult hypophosphatasia. Osteoporos Int. 2017;28(9):2653-62.","journal-title":"Osteoporos Int"},{"issue":"12","key":"key20190311134425_B15","doi-asserted-by":"crossref","first-page":"2743","DOI":"10.1007\/s00198-015-3272-1","article-title":"Hypophosphatasia: an overview of the disease and its treatment","volume":"26","author":"Bianchi","year":"2015","unstructured":"15. Bianchi ML. Hypophosphatasia: an overview of the disease and its treatment. Osteoporos Int. 2015;26(12):2743-57.","journal-title":"Osteoporos Int"},{"issue":"3","key":"key20190311134425_B16","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1007\/s00198-015-3346-0","article-title":"Absence of recognition of low alkaline phosphatase level in a tertiary care hospital","volume":"27","author":"Maman","year":"2016","unstructured":"16. Maman E, Borderie D, Roux C, Briot K. Absence of recognition of low alkaline phosphatase level in a tertiary care hospital. Osteoporos Int. 2016;27(3):1251-4.","journal-title":"Osteoporos Int"},{"issue":"8","key":"key20190311134425_B17","doi-asserted-by":"crossref","first-page":"2343","DOI":"10.1007\/s00198-017-4035-y","article-title":"Mutational and biochemical findings in adults with persistent hypophosphatasemia","volume":"28","author":"McKiernan","year":"2017","unstructured":"17. McKiernan FE, Dong J, Berg RL, Scotty E, Mundt P, Larson L, et al. Mutational and biochemical findings in adults with persistent hypophosphatasemia. Osteoporos Int. 2017;28(8):2343-8.","journal-title":"Osteoporos Int"},{"issue":"6","key":"key20190311134425_B18","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1359\/jbmr.081253","article-title":"Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia","volume":"24","author":"Whyte","year":"2009","unstructured":"18. Whyte MP. Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res. 2009;24(6):1132-4.","journal-title":"J Bone Miner Res"},{"issue":"7","key":"key20190311134425_B19","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1002\/jbmr.2178","article-title":"Clinical and radiographic findings in adults with persistent hypophosphatasemia","volume":"29","author":"McKiernan","year":"2014","unstructured":"19. McKiernan FE, Berg RL, Fuehrer J. Clinical and radiographic findings in adults with persistent hypophosphatasemia. J Bone Miner Res. 2014;29(7):1651-60.","journal-title":"J Bone Miner Res"},{"issue":"1","key":"key20190311134425_B20","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1136\/adc.65.1.130","article-title":"Myopathy with hypophosphatasia","volume":"65","author":"Seshia","year":"1990","unstructured":"20. Seshia, SS, Derbyshire, G, Haworth, JC, Hoogstraten, J. Myopathy with hypophosphatasia. Arch Dis Child. 1990;65(1):130-1.","journal-title":"Arch Dis Child"},{"issue":"6","key":"key20190311134425_B21","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1007\/s00774-017-0888-6","article-title":"Genetic analysis of adults heterozygous for ALPL mutations","volume":"36","author":"Taillandier","year":"2018","unstructured":"21. Taillandier A, Domingues C, Dufour A, Debiais F, Guggenbuhl P, Roux C, et al. Genetic analysis of adults heterozygous for ALPL mutations. J Bone Miner Metab. 2018;36(6):723-33.","journal-title":"J Bone Miner Metab"},{"issue":"4","key":"key20190311134425_B22","doi-asserted-by":"crossref","DOI":"10.1038\/ejhg.2013.177","article-title":"Clinical utility gene card for: hypophosphatasia \u2013 update 2013","volume":"22","author":"Mornet","year":"2014","unstructured":"22. Mornet E, Hofmann C, Bloch-Zupan A, Girschick H, Le Merrer M. Clinical utility gene card for: hypophosphatasia \u2013 update 2013. Eur J Hum Genet. 2014;22(4).","journal-title":"Eur J Hum Genet."},{"key":"key20190311134425_B23","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.ejim.2015.12.019","article-title":"Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults","volume":"29","author":"Riancho-Zarriabietia","year":"2016","unstructured":"23. Riancho-Zarriabietia L, Garc\u00eda-Unzueta M, Tenorio JA, G\u00f3mez-Gerique JA, P\u00e9rez VLR, Heath KE, et al. Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults. Eur J Int Med. 2016;29:40-5.","journal-title":"Eur J Int Med"},{"issue":"3","key":"key20190311134425_B24","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.ymgme.2004.11.003","article-title":"Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations","volume":"84","author":"Brun-Heat","year":"2005","unstructured":"24. Brun-Heat I, Taillandier A, Serre JL, Mornet E. Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. Mol Genet Metab. 2005;84(3):273-7.","journal-title":"Mol Genet Metab"},{"issue":"8","key":"key20190311134425_B25","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1359\/jbmr.2002.17.8.1383","article-title":"Kinetic characterization of hypophosphatasia mutations with physiological substrates","volume":"17","author":"Di Mauro","year":"2002","unstructured":"25. Di Mauro S, Manes T, Hessle L, Kozlenkov A, Pizauro JM, Hoylaerts MF, et al. Kinetic characterization of hypophosphatasia mutations with physiological substrates. J Bone Miner Res. 2002;17(8):1383-91.","journal-title":"J Bone Miner Res"},{"issue":"4","key":"key20190311134425_B26","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<309::AID-HUMU2>3.0.CO;2-C","article-title":"Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene","volume":"15","author":"Mornet","year":"2000","unstructured":"26. Mornet E. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat. 2000;15(4):309-15.","journal-title":"Hum Mutat"},{"issue":"3","key":"key20190311134425_B27","doi-asserted-by":"crossref","first-page":"347","DOI":"10.11138\/ccmbm\/2017.14.3.347","article-title":"Adult-onset hypophosphatasia diagnosed following bilateral atypical femoral fractures in a 55-year-old woman","volume":"14","author":"Lawrence","year":"2017","unstructured":"27. Lawrence JE, Saeed D, Bartlett J, Carrothers AD. Adult-onset hypophosphatasia diagnosed following bilateral atypical femoral fractures in a 55-year-old woman. Clin Cases Miner Bone Metab. 2017;14(3):347-53.","journal-title":"Clin Cases Miner Bone Metab"},{"issue":"4","key":"key20190311134425_B28","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1002\/jbmr.3075","article-title":"Hypophosphatasia: enzyme replacement therapy brings new opportunities and new challenges","volume":"32","author":"Whyte","year":"2017","unstructured":"28. Whyte MP. Hypophosphatasia: enzyme replacement therapy brings new opportunities and new challenges. J Bone Miner Res. 2017;32(4):667-75.","journal-title":"J Bone Miner Res"}],"container-title":["Archives of Endocrinology and Metabolism"],"original-title":[],"language":"en","deposited":{"date-parts":[[2019,3,11]],"date-time":"2019-03-11T17:44:41Z","timestamp":1552326281000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S2359-39972019000100089&lng=en&nrm=iso"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2]]},"references-count":28,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2019,2]]}},"alternative-id":["10.20945\/2359-3997000000108"],"URL":"https:\/\/doi.org\/10.20945\/2359-3997000000108","relation":{},"ISSN":["2359-3997","2359-4292"],"issn-type":[{"value":"2359-3997","type":"print"},{"value":"2359-4292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,2]]}}}