메뉴 건너뛰기




Volumn 101, Issue 1, 2016, Pages 334-342

Asfotase alfa treatment improves survival for perinatal and infantile hypophosphatasia

Author keywords

[No Author keywords available]

Indexed keywords

ASFOTASE ALFA; ALKALINE PHOSPHATASE; HYBRID PROTEIN; IMMUNOGLOBULIN G;

EID: 84954547947     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2015-3462     Document Type: Article
Times cited : (194)

References (37)
  • 1
    • 84863393533 scopus 로고    scopus 로고
    • Enzyme-replacement therapy in life-threatening hypophosphatasia
    • Whyte MP, Greenberg CR, Salman NJ, et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012; 366:904-913.
    • (2012) N Engl J Med. , vol.366 , pp. 904-913
    • Whyte, M.P.1    Greenberg, C.R.2    Salman, N.J.3
  • 2
    • 84872480709 scopus 로고    scopus 로고
    • Hypophosphatasia
    • In: Thakker RV, Whyte MP, Eisman JA, Igarashi T, eds Amsterdam, The Netherlands Elsevier/Academic Press
    • Whyte MP. Hypophosphatasia. In: Thakker RV, Whyte MP, Eisman JA, Igarashi T, eds. Genetics of Bone Biology and Skeletal Disease. Amsterdam, The Netherlands: Elsevier/Academic Press; 2013:337-360.
    • (2013) Genetics of Bone Biology and Skeletal Disease , pp. 337-360
    • Whyte, M.P.1
  • 3
    • 0014029045 scopus 로고
    • Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis
    • Fleisch H, Russell RG, Straumann F. Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis. Nature. 1966;212:901-903.
    • (1966) Nature. , vol.212 , pp. 901-903
    • Fleisch, H.1    Russell, R.G.2    Straumann, F.3
  • 4
    • 0011322884 scopus 로고
    • A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a form of lethal hypophosphatasia
    • Weiss MJ, Cole DE, Ray K, et al. A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a form of lethal hypophosphatasia. Proc Natl Acad Sci USA. 1988;85:7666-7669.
    • (1988) Proc Natl Acad Sci USA. , vol.85 , pp. 7666-7669
    • Weiss, M.J.1    Cole, D.E.2    Ray, K.3
  • 9
    • 84925378783 scopus 로고    scopus 로고
    • Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25 years' experience with 173 pediatric patients
    • Whyte MP, Zhang F, Wenkert D, et al. Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25 years' experience with 173 pediatric patients. Bone. 2015;75:229-239.
    • (2015) Bone. , vol.75 , pp. 229-239
    • Whyte, M.P.1    Zhang, F.2    Wenkert, D.3
  • 10
    • 34248573295 scopus 로고    scopus 로고
    • Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T-C, p.M226T; C.1112C-T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene
    • Baumgartner-Sigl S, Haberlandt E, Mumm S, et al. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T-C, p.M226T; c.1112C-T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. Bone. 2007;40:1655-1661.
    • (2007) Bone. , vol.40 , pp. 1655-1661
    • Baumgartner-Sigl, S.1    Haberlandt, E.2    Mumm, S.3
  • 11
    • 84954377286 scopus 로고    scopus 로고
    • Outcome of perinatal hypophosphatasia in Manitoba Mennonites: A retrospective cohort analysis
    • Leung EC, Mhanni AA, Reed M, Whyte MP, Landy H, Greenberg CR. Outcome of perinatal hypophosphatasia in Manitoba Mennonites: A retrospective cohort analysis. JIMD Rep. 2013;11:73-78.
    • (2013) JIMD Rep. , vol.11 , pp. 73-78
    • Leung, E.C.1    Mhanni, A.A.2    Reed, M.3    Whyte, M.P.4    Landy, H.5    Greenberg, C.R.6
  • 12
    • 0024242898 scopus 로고
    • Pulmonary hypoplasia in neonatal hypophosphatasia
    • Silver MM, Vilo GA, Milne KJ. Pulmonary hypoplasia in neonatal hypophosphatasia. Pediatr Pathol. 1988;8:483-493.
    • (1988) Pediatr Pathol. , vol.8 , pp. 483-493
    • Silver, M.M.1    Vilo, G.A.2    Milne, K.J.3
  • 13
    • 80053218301 scopus 로고    scopus 로고
    • Hypophosphatasia
    • In: Glorieux FH, Pettifor JM, Juppner H, eds London, UK Academic Press
    • Whyte MP. Hypophosphatasia. In: Glorieux FH, Pettifor JM, Juppner H, eds. Pediatric Bone: Biology and Diseases. London, UK: Academic Press; 2012:771-794.
    • (2012) Pediatric Bone: Biology and Diseases , pp. 771-794
    • Whyte, M.P.1
  • 14
    • 84865104399 scopus 로고    scopus 로고
    • Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy
    • Rodriguez E, BoberMB,Davey L, et al. Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy. Pediatr Pulmonol. 2012; 47:917-922.
    • (2012) Pediatr Pulmonol. , vol.47 , pp. 917-922
    • Rodriguez, E.1    Bober, M.B.2    Davey, L.3
  • 15
    • 84874593733 scopus 로고    scopus 로고
    • Hypophosphatasia-pathophysiology and treatment
    • Millán JL, Plotkin H. Hypophosphatasia-pathophysiology and treatment. Actual Osteol. 2012;8:164-182.
    • (2012) Actual Osteol. , vol.8 , pp. 164-182
    • Millán, J.L.1    Plotkin, H.2
  • 16
    • 0036213972 scopus 로고    scopus 로고
    • Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions
    • Litmanovitz I, Reish O, Dolfin T, et al. Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions. J Inherit Metab Dis. 2002;25:35-40.
    • (2002) J Inherit Metab Dis. , vol.25 , pp. 35-40
    • Litmanovitz, I.1    Reish, O.2    Dolfin, T.3
  • 17
    • 0036018872 scopus 로고    scopus 로고
    • Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn
    • Nunes ML, Mugnol F, Bica I, Fiori RM. Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn. J Child Neurol. 2002;17:222-224.
    • (2002) J Child Neurol. , vol.17 , pp. 222-224
    • Nunes, M.L.1    Mugnol, F.2    Bica, I.3    Fiori, R.M.4
  • 18
    • 0033892896 scopus 로고    scopus 로고
    • Infantile hypophosphatasia: Disappointing results of treatment
    • Deeb AA, Bruce SN, Morris AA, Cheetham TD. Infantile hypophosphatasia: Disappointing results of treatment. Acta Paediatr. 2000; 89:730-733.
    • (2000) Acta Paediatr. , vol.89 , pp. 730-733
    • Deeb, A.A.1    Bruce, S.N.2    Morris, A.A.3    Cheetham, T.D.4
  • 19
    • 80053176676 scopus 로고    scopus 로고
    • Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review
    • Wenkert D, McAlister WH, Coburn SP, et al. Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review). J Bone Miner Res. 2011;26:2389-2398.
    • (2011) J Bone Miner Res. , vol.26 , pp. 2389-2398
    • Wenkert, D.1    McAlister, W.H.2    Coburn, S.P.3
  • 22
    • 33847002736 scopus 로고    scopus 로고
    • Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy
    • Girschick HJ, Mornet E, Beer M, Warmuth-Metz M, Schneider P. Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy. BMC Pediatr. 2007;7:3.
    • (2007) BMC Pediatr. , vol.7 , pp. 3
    • Girschick, H.J.1    Mornet, E.2    Beer, M.3    Warmuth-Metz, M.4    Schneider, P.5
  • 23
    • 0032839769 scopus 로고    scopus 로고
    • Bone metabolism and bone mineral density in childhood hypophosphatasia
    • Girschick HJ, Schneider P, Kruse K, Huppertz HI. Bone metabolism and bone mineral density in childhood hypophosphatasia. Bone. 1999;25:361-367.
    • (1999) Bone. , vol.25 , pp. 361-367
    • Girschick, H.J.1    Schneider, P.2    Kruse, K.3    Huppertz, H.I.4
  • 25
    • 0007460949 scopus 로고
    • Absence of leukocyte alkaline phosphatase activity in hypophosphatasia
    • Beisel WR, Benjamin N, Austen KF. Absence of leukocyte alkaline phosphatase activity in hypophosphatasia. Blood. 1959;14:975-977.
    • (1959) Blood. , vol.14 , pp. 975-977
    • Beisel, W.R.1    Benjamin, N.2    Austen, K.F.3
  • 28
    • 0018876131 scopus 로고
    • Normobaric oxygen toxicity of the lung
    • Deneke SM, Fanburg BL. Normobaric oxygen toxicity of the lung. N Engl J Med. 1980;303:76-86.
    • (1980) N Engl J Med. , vol.303 , pp. 76-86
    • Deneke, S.M.1    Fanburg, B.L.2
  • 29
    • 0020509960 scopus 로고
    • Pulmonary oxygen toxicity. Early reversible changes in human alveolar structures induced by hyperoxia
    • Davis WB, Rennard SI, Bitterman PB, Crystal RG. Pulmonary oxygen toxicity. Early reversible changes in human alveolar structures induced by hyperoxia. N Engl J Med. 1983;309:878-883.
    • (1983) N Engl J Med. , vol.309 , pp. 878-883
    • Davis, W.B.1    Rennard, S.I.2    Bitterman, P.B.3    Crystal, R.G.4
  • 30
    • 0025037780 scopus 로고
    • Effects of exogenous surfactant therapy on dynamic compliance during mechanical breathing in preterm infants with hyaline membrane disease
    • Couser RJ, Ferrara TB, Ebert J, Hoekstra RE, Fangman JJ. Effects of exogenous surfactant therapy on dynamic compliance during mechanical breathing in preterm infants with hyaline membrane disease. J Pediatr. 1990;116:119-124.
    • (1990) J Pediatr. , vol.116 , pp. 119-124
    • Couser, R.J.1    Ferrara, T.B.2    Ebert, J.3    Hoekstra, R.E.4    Fangman, J.J.5
  • 31
    • 0026927687 scopus 로고
    • Early treatment of respiratory distress syndrome with bovine surfactant in very preterm infants: A multicenter controlled clinical trial
    • Gortner L, Bartmann P, Pohlandt F, et al. Early treatment of respiratory distress syndrome with bovine surfactant in very preterm infants: A multicenter controlled clinical trial. Pediatr Pulmonol. 1992;14:4-9.
    • (1992) Pediatr Pulmonol. , vol.14 , pp. 4-9
    • Gortner, L.1    Bartmann, P.2    Pohlandt, F.3
  • 32
    • 0024587698 scopus 로고
    • High frequency oscillatory ventilation compared with conventional mechanical ventilation in the treatment of respiratory failure in preterm infants
    • The HIFI Group. High frequency oscillatory ventilation compared with conventional mechanical ventilation in the treatment of respiratory failure in preterm infants. N Engl J Med. 1989;320:88-93.
    • (1989) N Engl J Med. , vol.320 , pp. 88-93
  • 33
    • 0035072327 scopus 로고    scopus 로고
    • Randomized trial of nasal synchronized intermittent mandatory ventilation compared with continuous positive airway pressure after extubation of very low birth weight infants
    • Barrington KJ, Bull D, Finer NN. Randomized trial of nasal synchronized intermittent mandatory ventilation compared with continuous positive airway pressure after extubation of very low birth weight infants. Pediatrics. 2001;107:638-641.
    • (2001) Pediatrics. , vol.107 , pp. 638-641
    • Barrington, K.J.1    Bull, D.2    Finer, N.N.3
  • 34
    • 0034951256 scopus 로고    scopus 로고
    • A prospective randomized, controlled trial comparing synchronized nasal intermittent positive pressure ventilation versus positive airway pressure as modes of extubation
    • Khalaf MN, Brodsky N, Hurley J, Bhandari V. A prospective randomized, controlled trial comparing synchronized nasal intermittent positive pressure ventilation versus positive airway pressure as modes of extubation. Pediatrics. 2001;108:13-17.
    • (2001) Pediatrics. , vol.108 , pp. 13-17
    • Khalaf, M.N.1    Brodsky, N.2    Hurley, J.3    Bhandari, V.4
  • 35
    • 0027337157 scopus 로고
    • A homoallelic Gly317-Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites
    • Greenberg CR, Taylor CL, Haworth JC, et al. A homoallelic Gly317-Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites. Genomics. 1993; 17:215-217.
    • (1993) Genomics. , vol.17 , pp. 215-217
    • Greenberg, C.R.1    Taylor, C.L.2    Haworth, J.C.3
  • 36
    • 10544254690 scopus 로고    scopus 로고
    • Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia
    • Ozono K, Yamagata M, Michigami T, et al. Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. J Clin Endocrinol Metab. 1996;81:4458-4561.
    • (1996) J Clin Endocrinol Metab. , vol.81 , pp. 4458-4561
    • Ozono, K.1    Yamagata, M.2    Michigami, T.3
  • 37
    • 18044375153 scopus 로고    scopus 로고
    • Common mutations F310L and T1559del in the tissuenonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia
    • Michigami T, Uchihashi T, Suzuki A, Tachikawa K, Nakajima S, Ozono K. Common mutations F310L and T1559del in the tissuenonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia. Eur J Pediatr. 2005;164:277-282.
    • (2005) Eur J Pediatr. , vol.164 , pp. 277-282
    • Michigami, T.1    Uchihashi, T.2    Suzuki, A.3    Tachikawa, K.4    Nakajima, S.5    Ozono, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.