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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":"2","doi-asserted-by":"crossref","unstructured":"2. Okazaki, Y, Kitajima, H, Mochizuki, N, Kitaoka, T, Michigami, T, Ozono, K. Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth. Eur J Pediatr 2016;175: 433\u20137.","DOI":"10.1007\/s00431-015-2641-2"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. 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":"4","doi-asserted-by":"crossref","unstructured":"4. 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":"5","doi-asserted-by":"crossref","unstructured":"5. Akiyama, T, Hayashi, Y, Hanaoka, Y, Shibata, T, Akiyama, M, Tsuchiya, H, et al. Pyridoxal 5-phosphate, pyridoxal, and 4-pyridoxic acid in the paired serum and cerebrospinal fluid of children. Clin Chim Acta 2017;472: 118\u201322.","DOI":"10.1016\/j.cca.2017.07.032"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Shimada, Y, Yoshiya, I, Tanaka, K, Yamazaki, T, Kumon, K. Crying vital capacity and maximal inspiratory pressure as clinical indicators of readiness for weaning of infants less than a year of age. Anesthesiology 1979;51: 456\u20139.","DOI":"10.1097\/00000542-197911000-00017"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. 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":"8","doi-asserted-by":"crossref","unstructured":"8. Taketani, T, Onigata, K, Kobayashi, H, Mushimoto, Y, Fukuda, S, Yamaguchi, S. Clinical and genetic aspects of hypophosphatasia in Japanese patients. Arch Dis Child 2014;99: 211\u20135.","DOI":"10.1136\/archdischild-2013-305037"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Adzhubei, IA, Schmidt, S, Peshkin, L, Ramensky, VE, Gerasimova, A, Bork, P, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7: 248\u20139.","DOI":"10.1038\/nmeth0410-248"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Kumar, P, Henikoff, S, Ng, PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4: 1073\u201381.","DOI":"10.1038\/nprot.2009.86"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Schwarz, JM, Cooper, DN, Schuelke, M, Seelow, D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 2014;11: 361\u20132.","DOI":"10.1038\/nmeth.2890"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. 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":"13","doi-asserted-by":"crossref","unstructured":"13. Rodriguez, E, Bober, MB, Davey, L, Zamora, A, Li Puma, AB, Chidekel, A, et al. Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy. Pediatr Pulmonol 2012;47: 917\u201322.","DOI":"10.1002\/ppul.22527"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Belachew, D, Kazmerski, T, Libman, I, Goldstein, AC, Stevens, ST, Deward, S, et al. Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures. 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