{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,16]],"date-time":"2025-05-16T10:08:17Z","timestamp":1747390097380,"version":"3.40.3"},"reference-count":35,"publisher":"Japan Endocrine Society","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Endocr J"],"published-print":{"date-parts":[[2025]]},"DOI":"10.1507\/endocrj.ej24-0431","type":"journal-article","created":{"date-parts":[[2025,1,28]],"date-time":"2025-01-28T22:11:07Z","timestamp":1738102267000},"page":"437-445","source":"Crossref","is-referenced-by-count":1,"title":["Efficacy of asfotase alfa in a patient with adult-onset hypophosphatasia without obvious bone lesions: a case report with review of literature"],"prefix":"10.1507","volume":"72","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-4348-6118","authenticated-orcid":false,"given":"Seiji","family":"Nishikage","sequence":"first","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaaki","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahiro","family":"Niikura","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuiko","family":"Inaba","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Kobe University Hospital, Kobe 650-0017, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoyuki","family":"Akiyama","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital, Okayama 700-8558, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Risa","family":"Harada","sequence":"additional","affiliation":[{"name":"Division of Rehabilitation Medicine, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshitada","family":"Sakai","sequence":"additional","affiliation":[{"name":"Division of Rehabilitation Medicine, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Sugawara","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanako","family":"Tachikawa","sequence":"additional","affiliation":[{"name":"Department of Bone and Mineral Research, Osaka Women\u2019s and Children\u2019s Hospital, Osaka Prefectural Hospital Organization, Osaka 594-1101, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshimi","family":"Michigami","sequence":"additional","affiliation":[{"name":"Department of Bone and Mineral Research, Osaka Women\u2019s and Children\u2019s Hospital, Osaka Prefectural Hospital Organization, Osaka 594-1101, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wataru","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9255-653X","authenticated-orcid":false,"given":"Hidenori","family":"Fukuoka","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Kobe University Hospital, Kobe 650-0017, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"386","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1 Mornet E (2008) Hypophosphatasia. Best Pract Res Clin Rheumatol 22: 113\u2013127.","DOI":"10.1016\/j.berh.2007.11.003"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2 Whyte MP (2017) Hypophosphatasia: an overview for 2017. Bone 102: 15\u201325.","DOI":"10.1016\/j.bone.2017.02.011"},{"key":"3","doi-asserted-by":"crossref","first-page":"e10842","DOI":"10.1002\/jbm4.10842","volume":"7","author":"N Hidaka","year":"2023","unstructured":"3 Hidaka N, Murata H, Tachikawa K, Osaki K, Sekiyama T, et al. (2023) The effect of asfotase alfa on plasma and urine pyrophosphate levels and pseudofractures in a patient with adult-onset hypophosphatasia. JBMR Plus 7: e10842.","journal-title":"JBMR Plus","ISSN":"https:\/\/id.crossref.org\/issn\/2473-4039","issn-type":"print"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4 Kishnani PS, Martos-Moreno G, Linglart A, Petryk A, Messali A, et al. (2024) Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry. Orphanet J Rare Dis 19: 109.","DOI":"10.1186\/s13023-024-03048-6"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5 Whyte MP, Rockman-Greenberg C, Ozono K, Riese R, Moseley S, et al. (2016) Asfotase alfa treatment improves survival for perinatal and infantile hypophosphatasia. J Clin Endocrinol Metab 101: 334\u2013342.","DOI":"10.1210\/jc.2015-3462"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6 Kitaoka T, Tajima T, Nagasaki K, Kikuchi T, Yamamoto K, et al. (2017) Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: results from a Japanese clinical trial. Clin Endocrinol (Oxf) 87: 10\u201319.","DOI":"10.1111\/cen.13343"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7 Berkseth KE, Tebben PJ, Drake MT, Hefferan TE, Jewison DE, et al. (2013) Clinical spectrum of hypophosphatasia diagnosed in adults. Bone 54: 21\u201327.","DOI":"10.1016\/j.bone.2013.01.024"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8 Schmidt T, Mussawy H, Rolvien T, Hawellek T, Hubert J, et al. (2017) Clinical, radiographic and biochemical characteristics of adult hypophosphatasia. Osteoporos Int 28: 2653\u20132662.","DOI":"10.1007\/s00198-017-4087-z"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9 Chapple IL (1993) Hypophosphatasia: dental aspects and mode of inheritance. J Clin Periodontol 20: 615\u2013622.","DOI":"10.1111\/j.1600-051X.1993.tb00705.x"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10 Weber TJ, Sawyer EK, Moseley S, Odrljin T, Kishnani PS (2016) Burden of disease in adult patients with hypophosphatasia: results from two patient-reported surveys. Metabolism 65: 1522\u20131530.","DOI":"10.1016\/j.metabol.2016.07.006"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11 Gonz\u00e1lez-Cejudo T, Villa-Su\u00e1rez JM, Ferrer-Mill\u00e1n M, And\u00fajar-Vera F, Contreras-Bol\u00edvar V, et al. (2024) Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases. Clin Chem Lab Med 62: 128\u2013137.","DOI":"10.1515\/cclm-2023-0427"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12 Watanabe A, Karasugi T, Sawai H, Naing BT, Ikegawa S, et al. (2011) Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers. J Hum Genet 56: 166\u2013168.","DOI":"10.1038\/jhg.2010.161"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13 Whyte MP, Greenberg CR, Salman NJ, Bober MB, McAlister WH, et al. (2012) Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med 366: 904\u2013913.","DOI":"10.1056\/NEJMoa1106173"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14 Kishnani PS, Rush ET, Arundel P, Bishop N, Dahir K, et al. (2017) Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Mol Genet Metab 122: 4\u201317.","DOI":"10.1016\/j.ymgme.2017.07.010"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15 Fukuhara S, Bito S, Green J, Hsiao A, Kurokawa K (1998) Translation, adaptation, and validation of the SF-36 Health Survey for use in Japan. J Clin Epidemiol 51: 1037\u20131044.","DOI":"10.1016\/S0895-4356(98)00095-X"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16 Fukuhara S, Ware JE Jr, Kosinski M, Wada S, Gandek B (1998) Psychometric and clinical tests of validity of the Japanese SF-36 Health Survey. J Clin Epidemiol 51: 1045\u20131053.","DOI":"10.1016\/S0895-4356(98)00096-1"},{"key":"17","unstructured":"17 Fukuhara S, Suzukamo Y (2015) Manual of SF-36v2 Japanese version. iHope International Inc., Kyoto, Japan."},{"key":"18","doi-asserted-by":"crossref","unstructured":"18 Akiyama T, Kubota T, Ozono K, Michigami T, Kobayashi D, et al. (2018) Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: effects of enzyme replacement therapy. Mol Genet Metab 125: 174\u2013180.","DOI":"10.1016\/j.ymgme.2018.07.006"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19 Cai G, Michigami T, Yamamoto T, Yasui N, Satomura K, et al. (1998) Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras. J Clin Endocrinol Metab 83: 3936\u20133942.","DOI":"10.1210\/jc.83.11.3936"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20 Mirdita M, Sch\u00fctze K, Moriwaki Y, Heo L, Ovchinnikov S, et al. (2022) ColabFold: making protein folding accessible to all. Nat Methods 19: 679\u2013682.","DOI":"10.1038\/s41592-022-01488-1"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21 Le Du MH, Stigbrand T, Taussig MJ, Menez A, Stura EA (2001) Crystal structure of alkaline phosphatase from human placenta at 1.8 A resolution. Implication for a substrate specificity. J Biol Chem 276: 9158\u20139165.","DOI":"10.1074\/jbc.M009250200"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22 Yu Y, Rong K, Yao D, Zhang Q, Cao X, et al. (2023) The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase. Nat Commun 14: 4048.","DOI":"10.1038\/s41467-023-39833-3"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23 Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, et al. (1998) Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Eur J Hum Genet 6: 308\u2013314.","DOI":"10.1038\/sj.ejhg.5200190"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24 Ito M, Amizuka N, Ozawa H, Oda K (2002) Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153-->Asp substitution, a cause of perinatal hypophosphatasia. Biochem J 361: 473\u2013480.","DOI":"10.1042\/bj3610473"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25 Magdaleno AL, Singh S, Venkataraman S, Perilli GA, Lee YY (2019) Adult-onset hypophosphatasia: before and after treatment with asfotase alfa. AACE Clin Case Rep 5: e344\u2013e348.","DOI":"10.4158\/ACCR-2019-0143"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26 Fanous N, Barb D (2020) Adult hypophosphatasia manifests in a marathon runner. BMJ Case Rep 13: e234764.","DOI":"10.1136\/bcr-2020-234764"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27 Koga M, Kinoshita Y, Kato H, Kobayashi H, Shinoda Y, et al. (2022) Massive calcification around large joints in a patient subsequently diagnosed with adult-onset hypophosphatasia. Osteoporos Int 33: 505\u2013509.","DOI":"10.1007\/s00198-021-06145-5"},{"key":"28","doi-asserted-by":"publisher","unstructured":"28 Klidaras P, Severt J, Aggers D, Payne J, Miller PD, et al. (2018) Fracture healing in two adult patients with hypophosphatasia after asfotase alfa therapy. JBMR Plus 2: 304\u2013307.","DOI":"10.1002\/jbm4.10052"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29 Alsarraf F, Ali DS, Almonaei K, Al-Alwani H, Khan AA, et al. (2024) Hypophosphatasia: presentation and response to asfotase alfa. Osteoporos Int 35: 717\u2013725.","DOI":"10.1007\/s00198-023-06943-z"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30 Taillandier A, Domingues C, Dufour A, Debiais F, Guggenbuhl P, et al. (2018) Genetic analysis of adults heterozygous for ALPL mutations. J Bone Miner Metab 36: 723\u2013733.","DOI":"10.1007\/s00774-017-0888-6"},{"key":"31","doi-asserted-by":"crossref","unstructured":"31 Mornet E, Taillandier A, Domingues C, Dufour A, Benaloun E, et al. (2021) Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation. Eur J Hum Genet 29: 289\u2013299.","DOI":"10.1038\/s41431-020-00732-6"},{"key":"32","doi-asserted-by":"crossref","unstructured":"32 Shapiro JR, Lewiecki EM (2017) Hypophosphatasia in adults: clinical assessment and treatment considerations. J Bone Miner Res 32: 1977\u20131980.","DOI":"10.1002\/jbmr.3226"},{"key":"33","doi-asserted-by":"crossref","unstructured":"33 Kishnani PS, Rockman-Greenberg C, Rauch F, Bhatti MT, Moseley S, et al. (2019) Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia. Bone 121: 149\u2013162.","DOI":"10.1016\/j.bone.2018.12.011"},{"key":"34","doi-asserted-by":"crossref","unstructured":"34 Rockman-Greenberg C, Josse R, Francis M, Mhanni A (2022) Impact of discontinuing 5 years of enzyme replacement treatment in a cohort of 6 adults with hypophosphatasia: a case series. Bone Rep 17: 101617.","DOI":"10.1016\/j.bonr.2022.101617"},{"key":"35","doi-asserted-by":"publisher","unstructured":"35 Shajani-Yi Z, Ayala-Lopez N, Black M, Dahir KM (2022) Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults. Bone 163: 116504.","DOI":"10.1016\/j.bone.2022.116504"}],"container-title":["Endocrine Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/72\/4\/72_EJ24-0431\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,5]],"date-time":"2025-04-05T04:21:39Z","timestamp":1743826899000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/72\/4\/72_EJ24-0431\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":35,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.1507\/endocrj.ej24-0431","relation":{},"ISSN":["0918-8959","1348-4540"],"issn-type":[{"type":"print","value":"0918-8959"},{"type":"electronic","value":"1348-4540"}],"subject":[],"published":{"date-parts":[[2025]]},"article-number":"EJ24-0431"}}