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Whyte,              MP.            Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and            treatment. Nat Rev Endocrinol          2016;12: 233\u201346.","DOI":"10.1038\/nrendo.2016.14"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Mill\u00e1n,              JL, Whyte,                MP. Alkaline            phosphatase and hypophosphatasia. Calcif Tissue Int          2016;98: 398\u2013416.","DOI":"10.1007\/s00223-015-0079-1"},{"key":"3","doi-asserted-by":"publisher","unstructured":"3. Vimalraj,                S. Alkaline            phosphatase: Structure, expression and its function in bone            mineralization. Gene          2020;754: 144855.","DOI":"10.1016\/j.gene.2020.144855"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Linglart,                A,                Biosse-Duplan,              M.            Hypophosphatasia. Curr Osteoporos Rep          2016;14: 95\u2013105.","DOI":"10.1007\/s11914-016-0309-0"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Mornet,              E.            Hypophosphatasia. Best Pract Res Clin            Rheumatol          2008;22: 113\u201327.","DOI":"10.1016\/j.berh.2007.11.003"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Michigami,                T, Ohata,                Y,              Fujiwara, M,                Mochizuki,              H, Adachi,                M, Kitaoka,                T, et al.            Clinical practice guidelines for hypophosphatasia.            Clin Pediatr Endocrinol          2020;29: 9\u201324.","DOI":"10.1297\/cpe.29.9"},{"key":"7","unstructured":"7. Rathbun,                JC.            Hypophosphatasia. Helv Paediatr Acta          1959;14: 548\u201353."},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Mumm,              S, Jones,                J,              Finnegan, P,                Whyte,            MP.            Hypophosphatasia: molecular diagnosis of Rathbun\u2019s original            case. J Bone Miner Res          2001;16: 1724\u20137.","DOI":"10.1359\/jbmr.2001.16.9.1724"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Michigami,                T,                Tachikawa,              K, Yamazaki,                M, Kawai,                M, Kubota,                T, Ozono,                K.            Hypophosphatasia in Japan: ALPL mutation analysis in 98 unrelated            patients. Calcif Tissue Int          2020;106: 221\u201331.","DOI":"10.1007\/s00223-019-00626-w"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Watanabe,                A,              Karasugi, T,                Sawai, H,                Naing, BT,                Ikegawa, S,                Orimo, H,              et al. 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          2011;56: 166\u20138.","DOI":"10.1038\/jhg.2010.161"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Michigami,                T,                Uchihashi,              T, Suzuki,                A,                Tachikawa,              K, Nakajima,                S, Ozono,                K. Common            mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are            related to distinct phenotypes in Japanese patients with            hypophosphatasia. Eur J Pediatr          2005;164: 277\u201382.","DOI":"10.1007\/s00431-004-1612-9"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Zurutuza,                L, Muller,                F, Gibrat,                JF,                Taillandier,              A,              Simon-Bouy,            B, Serre,                JL, et al.            Correlations of genotype and phenotype in            hypophosphatasia. Hum Mol Genet          1999;8: 1039\u201346.","DOI":"10.1093\/hmg\/8.6.1039"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Hofmann,              C, Girschick,                H, Mornet,                E,                Schneider,              D, Jakob,                F, Mentrup,                B. Unexpected            high intrafamilial phenotypic variability observed in hypophosphatasia.            Eur J Hum Genet          2014;22: 1160\u20134.","DOI":"10.1038\/ejhg.2014.10"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Ikenoue,              S, Miyakoshi,                K, Ishii,                T, Sato,                Y, Otani,                T, Akiba,                Y, et al.            Discordant fetal phenotype of hypophosphatasia in two            siblings. Am J Med Genet A          2018;176: 171\u20134.","DOI":"10.1002\/ajmg.a.38531"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Whyte,              MP,                Rockman-Greenberg,              C, Ozono,                K, Riese,                R, Moseley,                S, Melian,                A, et al.            Asfotase alfa treatment improves survival for perinatal and infantile            hypophosphatasia. J Clin Endocrinol Metab          2016;101: 334\u201342.","DOI":"10.1210\/jc.2015-3462"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Whyte,              MP.            Hypophosphatasia: Enzyme replacement therapy brings new opportunities and            new challenges. J Bone Miner Res          2017;32: 667\u201375.","DOI":"10.1002\/jbmr.3075"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Whyte,              MP,              Greenberg,            CR, Salman,                NJ, Bober,                MB,                McAlister,              WH, Wenkert,                D, et al.            Enzyme-replacement therapy in life-threatening            hypophosphatasia. N Engl J Med          2012;366: 904\u201313.","DOI":"10.1056\/NEJMoa1106173"},{"key":"18","first-page":"e85971","volume":"1","year":"2016","unstructured":"18. Whyte,              MP, Madson,                KL,                Phillips,            D, Reeves,                AL,                McAlister,              WH,              Yakimoski, A,              et al. Asfotase alfa therapy for children            with hypophosphatasia. JCI Insight          2016;1: e85971.","journal-title":"JCI Insight","ISSN":"https:\/\/id.crossref.org\/issn\/2379-3708","issn-type":"print"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Kitaoka,              T, Tajima,                T,              Nagasaki, K,                Kikuchi, T,                Yamamoto,            K, Michigami,                T, et al.            Safety and efficacy of treatment with asfotase alfa in patients with            hypophosphatasia: Results from a Japanese clinical trial. Clin            Endocrinol (Oxf)          2017;87: 10\u20139.","DOI":"10.1111\/cen.13343"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Okawa,              R, Kokomoto,                K, Kitaoka,                T, Kubota,                T,              Watanabe, A,                Taketani,            T, et al.            Japanese nationwide survey of hypophosphatasia reveals prominent            differences in genetic and dental findings between odonto and non-odonto            types. PLoS One          2019;14: e0222931.","DOI":"10.1371\/journal.pone.0222931"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Henthorn,                PS, Whyte,                MP. Missense            mutations of the tissue-nonspecific alkaline phosphatase gene in            hypophosphatasia. Clin Chem          1992;38: 2501\u20135.","DOI":"10.1093\/clinchem\/38.12.2501"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Richards,                S, Aziz,                N, Bale,                S, Bick,                D, Das,                S,                Gastier-Foster,              J, et al.            ACMG Laboratory Quality Assurance Committee.            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. Genet Med          2015;17: 405\u201324.","DOI":"10.1038\/gim.2015.30"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Goseki-Sone,                M, Orimo,                H, Iimura,                T, Takagi,                Y,              Watanabe, H,                Taketa, K,              et al. Hypophosphatasia: identification of            five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the            tissue-nonspecific alkaline phosphatase gene among Japanese patients.            Hum Mutat          1998;1(Suppl 1):            S263\u20137.","DOI":"10.1002\/humu.1380110184"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Sugiyama,                Y,              Watanabe, T,                Tajika, M,                Matsuhashi,              T, Shimura,                M, Fushimi,                T, et al.            A Japanese single-center experience of the efficacy and safety of            asfotase alfa in pediatric-onset hypophosphatasia. Orphanet J            Rare Dis          2022;17: 78.","DOI":"10.1186\/s13023-022-02230-y"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. 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: 723\u201333.","DOI":"10.1007\/s00774-017-0888-6"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Takagi,              M, Kato,                S, Muto,                T, Sano,                Y, Akiyama,                T, Takagi,                J, et al.            Odontohypophosphatasia treated with asfotase alfa enzyme replacement            therapy in a toddler: a case report. Clin Pediatr            Endocrinol          2020;29: 115\u20138.","DOI":"10.1297\/cpe.29.115"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27. Bloch-Zupan,                A, Vaysse,                F.            Hypophosphatasia: oral cavity and dental disorders.            Arch Pediatr          2017;24(5S2):            S80, S84.","DOI":"10.1016\/S0929-693X(18)30020-4"},{"key":"28","unstructured":"28. Mornet,              E, Nunes,                ME. Hypophosphatasia. In:          Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, et al., editors.          GeneReviews(R). Seattle:University of Washington; 1993."},{"key":"29","doi-asserted-by":"crossref","unstructured":"29. 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\u201339.","DOI":"10.1016\/j.bone.2015.02.022"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30. Rush,              ET. Childhood            hypophosphatasia: to treat or not to treat. Orphanet J Rare            Dis          2018;13: 116.","DOI":"10.1186\/s13023-018-0866-7"},{"key":"31","doi-asserted-by":"crossref","unstructured":"31. Fujisawa,                Y, Kitaoka,                T, Ono,                H,                Nakashima,              S, Ozono,                K, Ogata,                T. Case            report: Efficacy of reduced doses of asfotase alfa replacement therapy in an infant with            hypophosphatasia who lacked severe clinical symptoms. 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