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Volumn 26, Issue 12, 2015, Pages 2743-2757

Hypophosphatasia: an overview of the disease and its treatment

Author keywords

Alkaline phosphatase; Bone; Fractures; Hypomineralization; Hypophosphatasia; Teeth

Indexed keywords

ALKALINE PHOSPHATASE; ASFOTASE ALFA; BISPHOSPHONIC ACID DERIVATIVE; NONSTEROID ANTIINFLAMMATORY AGENT; TISSUE NON SPECIFIC ALKALINE PHOSPHATASE; UNCLASSIFIED DRUG;

EID: 84948712705     PISSN: 0937941X     EISSN: 14332965     Source Type: Journal    
DOI: 10.1007/s00198-015-3272-1     Document Type: Review
Times cited : (94)

References (125)
  • 1
    • 0000034593 scopus 로고
    • Hypophosphatasia; a new developmental anomaly
    • COI: 1:CAS:528:DyaH1MXjt1Wmuw%3D%3D, PID: 18110134
    • Rathbun JC (1948) Hypophosphatasia; a new developmental anomaly. Am J Dis Child 75:822–831
    • (1948) Am J Dis Child , vol.75 , pp. 822-831
    • Rathbun, J.C.1
  • 2
    • 0025856050 scopus 로고
    • Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: clinical and laboratory aspects
    • COI: 1:CAS:528:DyaK3MXltFWksrw%3D, PID: 1647780
    • Caswell AM, Whyte MP, Russell RG (1991) Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: clinical and laboratory aspects. Crit Rev Clin Lab Sci 28:175–232
    • (1991) Crit Rev Clin Lab Sci , vol.28 , pp. 175-232
    • Caswell, A.M.1    Whyte, M.P.2    Russell, R.G.3
  • 3
    • 38949099010 scopus 로고    scopus 로고
    • Hypophosphatasia update: recent advances in diagnosis and treatment
    • COI: 1:CAS:528:DC%2BD1cXhsVOnsr3J, PID: 18190594
    • Cole DEC (2008) Hypophosphatasia update: recent advances in diagnosis and treatment. Clin Genet 73:232–235
    • (2008) Clin Genet , vol.73 , pp. 232-235
    • Cole, D.E.C.1
  • 5
    • 37549013792 scopus 로고    scopus 로고
    • Hypophosphatasia
    • PID: 17916236
    • Mornet E (2007) Hypophosphatasia. Orphanet J Rare Dis 2:40. doi:10.1186/1750-1172-2-40
    • (2007) Orphanet J Rare Dis , vol.2 , pp. 40
    • Mornet, E.1
  • 6
    • 40349096778 scopus 로고    scopus 로고
    • Hypophosphatasia
    • COI: 1:CAS:528:DC%2BD1cXjtVWgsLo%3D, PID: 18328985
    • Mornet E (2008) Hypophosphatasia. Best Pract Res Clin Rheumatol 22:113–127
    • (2008) Best Pract Res Clin Rheumatol , vol.22 , pp. 113-127
    • Mornet, E.1
  • 8
    • 0030980032 scopus 로고    scopus 로고
    • Immunolocalization of tissue non-specific alkaline phosphatase in mice
    • COI: 1:CAS:528:DyaK2sXit1yqtr8%3D, PID: 9105889
    • Hoshi K, Amizuka N, Oda K, Ikehara Y, Ozawa H (1997) Immunolocalization of tissue non-specific alkaline phosphatase in mice. Histochem Cell Biol 107:183–191
    • (1997) Histochem Cell Biol , vol.107 , pp. 183-191
    • Hoshi, K.1    Amizuka, N.2    Oda, K.3    Ikehara, Y.4    Ozawa, H.5
  • 9
    • 77950665927 scopus 로고    scopus 로고
    • Physiological role of alkaline phosphatase explored in hypophosphatasia
    • COI: 1:CAS:528:DC%2BC3cXmsVSrsbY%3D, PID: 20392236
    • Whyte MP (2010) Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann NY Acad Sci 1192:190–200
    • (2010) Ann NY Acad Sci , vol.1192 , pp. 190-200
    • Whyte, M.P.1
  • 10
    • 17644387503 scopus 로고    scopus 로고
    • Postnatal development of alkaline phosphatase activity correlates with the maturation of neurotransmission in the cerebral cortex
    • PID: 15844208
    • Fonta C, Negyessy L, Renaud L, Barone P (2005) Postnatal development of alkaline phosphatase activity correlates with the maturation of neurotransmission in the cerebral cortex. J Comp Neurol 486:179–196
    • (2005) J Comp Neurol , vol.486 , pp. 179-196
    • Fonta, C.1    Negyessy, L.2    Renaud, L.3    Barone, P.4
  • 11
    • 0036176152 scopus 로고    scopus 로고
    • Histochemical localization of alkaline phosphatase activity in decalcified bone and cartilage
    • COI: 1:CAS:528:DC%2BD38XhvF2mtr0%3D, PID: 11850436
    • Miao D, Scutt A (2002) Histochemical localization of alkaline phosphatase activity in decalcified bone and cartilage. J Histochem Cytochem 50:333–340
    • (2002) J Histochem Cytochem , vol.50 , pp. 333-340
    • Miao, D.1    Scutt, A.2
  • 12
    • 0021811803 scopus 로고
    • Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism
    • COI: 1:STN:280:DyaL2M3ovF2hsw%3D%3D, PID: 4031070
    • Whyte MP, Mahuren JD, Vrabel LA, Coburn SP (1985) Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. J Clin Invest 76:752–756
    • (1985) J Clin Invest , vol.76 , pp. 752-756
    • Whyte, M.P.1    Mahuren, J.D.2    Vrabel, L.A.3    Coburn, S.P.4
  • 13
    • 0035160863 scopus 로고    scopus 로고
    • Abnormal vitamin B6 metabolism in alkaline phosphatase knock-out mice causes multiple abnormalities, but not the impaired bone mineralization
    • COI: 1:CAS:528:DC%2BD3MXntVemtA%3D%3D, PID: 11169525
    • Narisawa S, Wennberg C, Millan JL (2001) Abnormal vitamin B6 metabolism in alkaline phosphatase knock-out mice causes multiple abnormalities, but not the impaired bone mineralization. J Pathol 193:125–133
    • (2001) J Pathol , vol.193 , pp. 125-133
    • Narisawa, S.1    Wennberg, C.2    Millan, J.L.3
  • 14
    • 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
    • COI: 1:CAS:528:DC%2BD2sXlsF2msrc%3D, PID: 17395561
    • Baumgartner-Sigl S, Haberlandt E, Mumm S, Scholl-Bürgi S, Sergi C, Ryan L, Ericson KL, Whyte MP, Högler W (2007) 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 40:1655–1661
    • (2007) Bone , vol.40 , pp. 1655-1661
    • Baumgartner-Sigl, S.1    Haberlandt, E.2    Mumm, S.3    Scholl-Bürgi, S.4    Sergi, C.5    Ryan, L.6    Ericson, K.L.7    Whyte, M.P.8    Högler, W.9
  • 15
    • 0036018872 scopus 로고    scopus 로고
    • Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn
    • PID: 12026240
    • Nunes ML, Mugnol F, Bica I, Fiori RM (2002) Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn. J Child Neurol 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
  • 16
    • 1642329991 scopus 로고    scopus 로고
    • A successful treatment with pyridoxal phosphate for West syndrome in hypophosphatasia
    • PID: 15033207
    • Yamamoto H, Sasamoto Y, Miyamoto Y, Murakami H, Kamiyama N (2004) A successful treatment with pyridoxal phosphate for West syndrome in hypophosphatasia. Pediatr Neurol 30:216–218
    • (2004) Pediatr Neurol , vol.30 , pp. 216-218
    • Yamamoto, H.1    Sasamoto, Y.2    Miyamoto, Y.3    Murakami, H.4    Kamiyama, N.5
  • 17
    • 77957864038 scopus 로고    scopus 로고
    • Knockdown of tissue nonspecific alkaline phosphatase impairs neural stem cell proliferation and differentiation
    • COI: 1:CAS:528:DC%2BC3cXhtlSgsrbE, PID: 20849921
    • Kermer V, Ritter M, Albuquerque B, Leib C, Stanke M, Zimmermann H (2010) Knockdown of tissue nonspecific alkaline phosphatase impairs neural stem cell proliferation and differentiation. Neurosci Lett 485:208–211
    • (2010) Neurosci Lett , vol.485 , pp. 208-211
    • Kermer, V.1    Ritter, M.2    Albuquerque, B.3    Leib, C.4    Stanke, M.5    Zimmermann, H.6
  • 18
    • 84881087204 scopus 로고    scopus 로고
    • Multisystemic functions of alkaline phosphatase. In: José Luis Millán (ed.). Phosphatase modulators. Methods in molecular biology. Springer Science + Business Media - Humana Press, New York, pp. 27-51
    • Buchet R, Millán JL, Magne D (2013) Multisystemic functions of alkaline phosphatase. In: José Luis Millán (ed.). Phosphatase modulators. Methods in molecular biology. Springer Science + Business Media - Humana Press, New York, pp. 27-51. doi: 10.1007/978-1-62703-562-0_3
    • (2013) doi: 10.1007/978-1-62703-562-0_3
    • Buchet, R.1    Millán, J.L.2    Magne, D.3
  • 19
    • 0023696449 scopus 로고
    • Structure of the human liver/bone/kidney alkaline phosphatase gene
    • COI: 1:CAS:528:DyaL1cXlsVertrs%3D, PID: 3165380
    • Weiss MJ, Ray K, Henthorn PS, Lamb B, Kadesch T, Harris H (1988) Structure of the human liver/bone/kidney alkaline phosphatase gene. J Biol Chem 263:12002–12010
    • (1988) J Biol Chem , vol.263 , pp. 12002-12010
    • Weiss, M.J.1    Ray, K.2    Henthorn, P.S.3    Lamb, B.4    Kadesch, T.5    Harris, H.6
  • 20
    • 0023955534 scopus 로고
    • Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34
    • COI: 1:CAS:528:DyaL1cXlsVelsLk%3D, PID: 3410475
    • Smith M, Weiss MJ, Griffin CA, Murray JC, Buetow KH, Emanuel BS, Henthorn PS, Harris H (1988) Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34. Genomics 2:139–143
    • (1988) Genomics , vol.2 , pp. 139-143
    • Smith, M.1    Weiss, M.J.2    Griffin, C.A.3    Murray, J.C.4    Buetow, K.H.5    Emanuel, B.S.6    Henthorn, P.S.7    Harris, H.8
  • 21
    • 84906860668 scopus 로고    scopus 로고
    • Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia
    • COI: 1:CAS:528:DC%2BC2cXhsVGjt7jJ, PID: 25023282
    • Silvent J, Gasse B, Mornet E, Sire JY (2014) Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia. J Biol Chem 289:24168–24179
    • (2014) J Biol Chem , vol.289 , pp. 24168-24179
    • Silvent, J.1    Gasse, B.2    Mornet, E.3    Sire, J.Y.4
  • 25
    • 67649868096 scopus 로고    scopus 로고
    • Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles
    • PID: 19500388
    • Fauvert D, Brun-Heath I, Lia-Baldini AS, Bellazi L, Taillandier A, Serre JL, de Mazancourt P, Mornet E (2009) Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med Genet 10:51
    • (2009) BMC Med Genet , vol.10 , pp. 51
    • Fauvert, D.1    Brun-Heath, I.2    Lia-Baldini, A.S.3    Bellazi, L.4    Taillandier, A.5    Serre, J.L.6    de Mazancourt, P.7    Mornet, E.8
  • 27
    • 42149118918 scopus 로고    scopus 로고
    • A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein
    • COI: 1:CAS:528:DC%2BD1cXks1Gjt7k%3D, PID: 18340466
    • Lia-Baldini AS, Brun-Heath I, Carrion C, Simon-Bouy B, Serre JL, Nunes ME, Mornet E (2008) A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. Hum Genet 123:429–432
    • (2008) Hum Genet , vol.123 , pp. 429-432
    • Lia-Baldini, A.S.1    Brun-Heath, I.2    Carrion, C.3    Simon-Bouy, B.4    Serre, J.L.5    Nunes, M.E.6    Mornet, E.7
  • 29
    • 84927020221 scopus 로고    scopus 로고
    • Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia
    • COI: 1:CAS:528:DC%2BC2cXjsFGlu7k%3D, PID: 24569605
    • Hofmann C, Girschick H, Mornet E, Schneider D, Jakob F, Mentrup B (2014) Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia. Eur J Hum Genet 22:1160–1164
    • (2014) Eur J Hum Genet , vol.22 , pp. 1160-1164
    • Hofmann, C.1    Girschick, H.2    Mornet, E.3    Schneider, D.4    Jakob, F.5    Mentrup, B.6
  • 30
    • 17644367807 scopus 로고    scopus 로고
    • Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD
    • COI: 1:CAS:528:DC%2BD2MXnt1yms7g%3D, PID: 15824850
    • Goseki-Sone M, Sogabe N, Fukushi-Irie M, Mizoi L, Orimo H, Suzuki T, Nakamura H, Orimo H, Hosoi T (2005) Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD. J Bone Miner Res 20:773–782
    • (2005) J Bone Miner Res , vol.20 , pp. 773-782
    • Goseki-Sone, M.1    Sogabe, N.2    Fukushi-Irie, M.3    Mizoi, L.4    Orimo, H.5    Suzuki, T.6    Nakamura, H.7    Orimo, H.8    Hosoi, T.9
  • 31
    • 84555195697 scopus 로고    scopus 로고
    • Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density
    • COI: 1:CAS:528:DC%2BC38XnslarsA%3D%3D, PID: 21956185
    • Nielson CM, Zmuda JM, Carlos AS, Wagoner WJ, Larson EA, Orwoll ES, Klein RF (2012) Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density. J Bone Miner Res 27:93–103
    • (2012) J Bone Miner Res , vol.27 , pp. 93-103
    • Nielson, C.M.1    Zmuda, J.M.2    Carlos, A.S.3    Wagoner, W.J.4    Larson, E.A.5    Orwoll, E.S.6    Klein, R.F.7
  • 32
    • 0001206301 scopus 로고
    • Hypophosphatasia
    • COI: 1:STN:280:DyaG2s%2Flslaqug%3D%3D, PID: 13410963
    • Fraser D (1957) Hypophosphatasia. Am J Med 22:730–746
    • (1957) Am J Med , vol.22 , pp. 730-746
    • Fraser, D.1
  • 33
    • 42949084245 scopus 로고    scopus 로고
    • Unique disease heritage of the Dutch-German Mennonite population
    • PID: 18348259
    • Orton NC, Innes AM, Chudley AE, Bech-Hansen NT (2008) Unique disease heritage of the Dutch-German Mennonite population. Am J Med Genet A 146A:1072–1087
    • (2008) Am J Med Genet A , vol.146A , pp. 1072-1087
    • Orton, N.C.1    Innes, A.M.2    Chudley, A.E.3    Bech-Hansen, N.T.4
  • 34
    • 0025181430 scopus 로고
    • Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers
    • COI: 1:STN:280:DyaK3c7ksVOgug%3D%3D, PID: 1689104
    • Greenberg CR, Evans JA, McKendry-Smith S, Redekopp S, Haworth JC, Mulivor R, Chodirker BN (1990) Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. Am J Hum Genet 46:286–292
    • (1990) Am J Hum Genet , vol.46 , pp. 286-292
    • Greenberg, C.R.1    Evans, J.A.2    McKendry-Smith, S.3    Redekopp, S.4    Haworth, J.C.5    Mulivor, R.6    Chodirker, B.N.7
  • 35
    • 79954584814 scopus 로고    scopus 로고
    • A molecular-based estimation of the prevalence of hypophosphatasia in the European population
    • PID: 21488855
    • Mornet E, Yvard A, Taillandier A, Fauvert D, Simon-Bouy B (2011) A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet 75:439–445
    • (2011) Ann Hum Genet , vol.75 , pp. 439-445
    • Mornet, E.1    Yvard, A.2    Taillandier, A.3    Fauvert, D.4    Simon-Bouy, B.5
  • 36
    • 79952179096 scopus 로고    scopus 로고
    • 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
    • COI: 1:CAS:528:DC%2BC3MXisVOjtrc%3D, PID: 21179104
    • Watanabe A, Karasugi T, Sawai H, Naing BT, Ikegawa S, Orimo H, Shimada T (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 56:166–168
    • (2011) J Hum Genet , vol.56 , pp. 166-168
    • Watanabe, A.1    Karasugi, T.2    Sawai, H.3    Naing, B.T.4    Ikegawa, S.5    Orimo, H.6    Shimada, T.7
  • 37
    • 33745053865 scopus 로고    scopus 로고
    • Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry
    • COI: 1:CAS:528:DC%2BD28XlsFGlu7Y%3D, PID: 16769381
    • Whyte MP, Essmyer K, Geimer M, Mumm S (2006) Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry. J Pediatr 148:753–758
    • (2006) J Pediatr , vol.148 , pp. 753-758
    • Whyte, M.P.1    Essmyer, K.2    Geimer, M.3    Mumm, S.4
  • 38
    • 84880262364 scopus 로고    scopus 로고
    • The role of phosphatases in the initiation of skeletal mineralization
    • PID: 23183786
    • Millán JL (2013) The role of phosphatases in the initiation of skeletal mineralization. Calcif Tissue Int 93:299–306
    • (2013) Calcif Tissue Int , vol.93 , pp. 299-306
    • Millán, J.L.1
  • 39
    • 33845972288 scopus 로고    scopus 로고
    • Bone: nature of the calcium phosphate crystals and cellular, structural, and physical chemical mechanisms in their formation
    • COI: 1:CAS:528:DC%2BD2sXkslKguw%3D%3D
    • Glimcher MJ (2006) Bone: nature of the calcium phosphate crystals and cellular, structural, and physical chemical mechanisms in their formation. Rev Mineral Geochem 64:223–282
    • (2006) Rev Mineral Geochem , vol.64 , pp. 223-282
    • Glimcher, M.J.1
  • 40
    • 0014493479 scopus 로고
    • Vesicles associated with calcification in the matrix of epiphyseal cartilage
    • COI: 1:STN:280:DyaF1M7kt1arug%3D%3D, PID: 5775794
    • Anderson HC (1969) Vesicles associated with calcification in the matrix of epiphyseal cartilage. J Cell Biol 41:59–72
    • (1969) J Cell Biol , vol.41 , pp. 59-72
    • Anderson, H.C.1
  • 41
    • 0029061758 scopus 로고
    • Molecular biology of matrix vesicles
    • PID: 7634645
    • Anderson HC (1995) Molecular biology of matrix vesicles. Clin Orthop Relat Res 314:266–280
    • (1995) Clin Orthop Relat Res , vol.314 , pp. 266-280
    • Anderson, H.C.1
  • 42
    • 71549144945 scopus 로고    scopus 로고
    • Role of matrix vesicles in biomineralization
    • COI: 1:CAS:528:DC%2BD1MXhsVWqsrrO, PID: 19786074
    • Golub EE (2009) Role of matrix vesicles in biomineralization. Biochim Biophys Acta 1790:1592–1598
    • (2009) Biochim Biophys Acta , vol.1790 , pp. 1592-1598
    • Golub, E.E.1
  • 43
    • 0032914940 scopus 로고    scopus 로고
    • Extracellular matrix calcification: where is the action?
    • COI: 1:CAS:528:DyaK1MXpsVClsw%3D%3D, PID: 9988260
    • Schinke T, McKee MD, Karsenty G (1999) Extracellular matrix calcification: where is the action? Nat Genet 21:150–151
    • (1999) Nat Genet , vol.21 , pp. 150-151
    • Schinke, T.1    McKee, M.D.2    Karsenty, G.3
  • 44
    • 0037047051 scopus 로고    scopus 로고
    • Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization
    • COI: 1:CAS:528:DC%2BD38XlsVGgt70%3D, PID: 12082181
    • Hessle L, Johnson KA, Anderson HC, Narisawa S, Sali A, Goding JW, Terkeltaub R, Millan JL (2002) Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization. Proc Natl Acad Sci U S A 99:9445–9449
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 9445-9449
    • Hessle, L.1    Johnson, K.A.2    Anderson, H.C.3    Narisawa, S.4    Sali, A.5    Goding, J.W.6    Terkeltaub, R.7    Millan, J.L.8
  • 45
    • 1642313676 scopus 로고    scopus 로고
    • Concerted regulation of inorganic pyrophosphate and osteopontin by akp2, enpp1, and ank: an integrated model of the pathogenesis of mineralization disorders
    • COI: 1:CAS:528:DC%2BD2cXjsFemur0%3D, PID: 15039209
    • Harmey D, Hessle L, Narisawa S, Johnson KA, Terkeltaub R, Millan JL (2004) Concerted regulation of inorganic pyrophosphate and osteopontin by akp2, enpp1, and ank: an integrated model of the pathogenesis of mineralization disorders. Am J Pathol 164:1199–1209
    • (2004) Am J Pathol , vol.164 , pp. 1199-1209
    • Harmey, D.1    Hessle, L.2    Narisawa, S.3    Johnson, K.A.4    Terkeltaub, R.5    Millan, J.L.6
  • 46
    • 1242316272 scopus 로고    scopus 로고
    • Impaired calcification around matrix vesicles of growth plate and bone in alkaline phosphatase-deficient mice
    • COI: 1:CAS:528:DC%2BD2cXitl2jtr0%3D, PID: 14982838
    • Anderson HC, Sipe JB, Hessle L, Dhanyamraju R, Atti E, Camacho NP, Millán JL (2004) Impaired calcification around matrix vesicles of growth plate and bone in alkaline phosphatase-deficient mice. Am J Pathol 164:841–847
    • (2004) Am J Pathol , vol.164 , pp. 841-847
    • Anderson, H.C.1    Sipe, J.B.2    Hessle, L.3    Dhanyamraju, R.4    Atti, E.5    Camacho, N.P.6    Millán, J.L.7
  • 47
    • 76249113874 scopus 로고    scopus 로고
    • The mechanism of mineralization and the role of alkaline phosphatase in health and disease
    • COI: 1:CAS:528:DC%2BC3cXlt1Oqtbo%3D, PID: 20154452
    • Orimo H (2010) The mechanism of mineralization and the role of alkaline phosphatase in health and disease. J Nippon Med Sch 77:4–12
    • (2010) J Nippon Med Sch , vol.77 , pp. 4-12
    • Orimo, H.1
  • 48
    • 0033815250 scopus 로고    scopus 로고
    • Functional characterization of osteoblasts and osteoclasts from alkaline phosphatase knockout mice
    • COI: 1:CAS:528:DC%2BD3cXnsVCltbs%3D, PID: 11028439
    • Wennberg C, Hessle L, Lundberg P, Mauro S, Narisawa S, Lerner UH, Millán JL (2000) Functional characterization of osteoblasts and osteoclasts from alkaline phosphatase knockout mice. J Bone Miner Res 15:1879–1888
    • (2000) J Bone Miner Res , vol.15 , pp. 1879-1888
    • Wennberg, C.1    Hessle, L.2    Lundberg, P.3    Mauro, S.4    Narisawa, S.5    Lerner, U.H.6    Millán, J.L.7
  • 49
    • 77649188156 scopus 로고    scopus 로고
    • Systemic disorders and their influence on the development of dental hard tissues: a literature review
    • PID: 20004698
    • Atar M, Körperich EJ (2010) Systemic disorders and their influence on the development of dental hard tissues: a literature review. J Dent 38:296–306
    • (2010) J Dent , vol.38 , pp. 296-306
    • Atar, M.1    Körperich, E.J.2
  • 52
    • 0015802288 scopus 로고
    • Childhood hypophosphatasia and the premature loss of teeth. A clinical and laboratory study of seven cases
    • PID: 4512507
    • Beumer J III, Trowbridge HO, Silverman S Jr, Eisenberg E (1973) Childhood hypophosphatasia and the premature loss of teeth. A clinical and laboratory study of seven cases. Oral Surg Oral Med Oral Pathol 35:631–640
    • (1973) Oral Surg Oral Med Oral Pathol , vol.35 , pp. 631-640
    • Beumer, J.1    Trowbridge, H.O.2    Silverman, S.3    Eisenberg, E.4
  • 53
    • 0016931344 scopus 로고
    • Odontohypophosphatasia: report of two cases
    • COI: 1:STN:280:DyaE287kt12htw%3D%3D, PID: 767378
    • Brittain JM, Oldenburg TR, Burkes EJ Jr (1976) Odontohypophosphatasia: report of two cases. ASDC J Dent Child 43:106–111
    • (1976) ASDC J Dent Child , vol.43 , pp. 106-111
    • Brittain, J.M.1    Oldenburg, T.R.2    Burkes, E.J.3
  • 54
    • 84925378783 scopus 로고    scopus 로고
    • Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients
    • COI: 1:CAS:528:DC%2BC2MXlsV2gt7s%3D, PID: 25731960
    • Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC, Coburn SP, Wagy S, Griffin DM, Ericson KL, Mumm S (2015) Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone 75:229–239
    • (2015) Bone , vol.75 , pp. 229-239
    • Whyte, M.P.1    Zhang, F.2    Wenkert, D.3    McAlister, W.H.4    Mack, K.E.5    Benigno, M.C.6    Coburn, S.P.7    Wagy, S.8    Griffin, D.M.9    Ericson, K.L.10    Mumm, S.11
  • 56
    • 0001594259 scopus 로고    scopus 로고
    • Hypophosphatasia
    • Scriver CR, Beaudet AL, Sly WS, Valle D, (eds), McGraw-Hill, New York
    • Whyte MP (2001) Hypophosphatasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 5313–5329
    • (2001) The metabolic and molecular bases of inherited disease , pp. 5313-5329
    • Whyte, M.P.1
  • 57
    • 84877623262 scopus 로고    scopus 로고
    • Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia
    • COI: 1:CAS:528:DC%2BC3sXjvVegtrs%3D, PID: 23454488
    • Hofmann C, Liese J, Schwarz T, Kunzmann S, Wirbelauer J, Nowak J, Hamann J, Girschick H, Graser S, Dietz K, Zeck S, Jakob F, Mentrup B (2013) Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia. Bone 55:150–157
    • (2013) Bone , vol.55 , pp. 150-157
    • Hofmann, C.1    Liese, J.2    Schwarz, T.3    Kunzmann, S.4    Wirbelauer, J.5    Nowak, J.6    Hamann, J.7    Girschick, H.8    Graser, S.9    Dietz, K.10    Zeck, S.11    Jakob, F.12    Mentrup, B.13
  • 58
    • 77954655162 scopus 로고    scopus 로고
    • Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability
    • PID: 20049532
    • Balasubramaniam S, Bowling F, Carpenter K, Earl J, Chaitow J, Pitt J, Mornet E, Sillence D, Ellaway C (2010) Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability. J Inherit Metab Dis 33(Suppl 3):S25–33
    • (2010) J Inherit Metab Dis , vol.33 , pp. S25-S33
    • Balasubramaniam, S.1    Bowling, F.2    Carpenter, K.3    Earl, J.4    Chaitow, J.5    Pitt, J.6    Mornet, E.7    Sillence, D.8    Ellaway, C.9
  • 61
    • 0033615462 scopus 로고    scopus 로고
    • Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken
    • COI: 1:STN:280:DyaK1MvjvFGhsw%3D%3D, PID: 10508985
    • Pauli RM, Modaff P, Sipes SL, Whyte MP (1999) Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. Am J Med Genet 86:434–438
    • (1999) Am J Med Genet , vol.86 , pp. 434-438
    • Pauli, R.M.1    Modaff, P.2    Sipes, S.L.3    Whyte, M.P.4
  • 62
  • 63
    • 0034335426 scopus 로고    scopus 로고
    • Asp361Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme
    • PID: 10690885
    • Müller HL, Yamazaki M, Michigami T, Kageyama T, Schönau E, Schneider P, Ozono K (2000) Asp361Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme. J Clin Endocrinol Metab 85:743–747
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 743-747
    • Müller, H.L.1    Yamazaki, M.2    Michigami, T.3    Kageyama, T.4    Schönau, E.5    Schneider, P.6    Ozono, K.7
  • 65
    • 84862978180 scopus 로고    scopus 로고
    • Childhood hypophosphatasia with myopathy: clinical report with recent update
    • COI: 1:STN:280:DC%2BC38jovVyrsw%3D%3D, PID: 22781519
    • Silva I, Castelão W, Mateus M, Branco JC (2012) Childhood hypophosphatasia with myopathy: clinical report with recent update. Acta Reumatol Port 37:92–96
    • (2012) Acta Reumatol Port , vol.37 , pp. 92-96
    • Silva, I.1    Castelão, W.2    Mateus, M.3    Branco, J.C.4
  • 66
    • 33644875764 scopus 로고    scopus 로고
    • Scoliosis in association with infantile hypophosphatasia. A case study in two siblings
    • COI: 1:STN:280:DC%2BD2Mvjs12ktg%3D%3D, PID: 16103841
    • Arun R, Khazim R, Webb JK, Burn J (2005) Scoliosis in association with infantile hypophosphatasia. A case study in two siblings. Spine 30:E471–E476
    • (2005) Spine , vol.30 , pp. E471-E476
    • Arun, R.1    Khazim, R.2    Webb, J.K.3    Burn, J.4
  • 69
    • 33847748635 scopus 로고    scopus 로고
    • Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood
    • PID: 17229666
    • Khandwala HM, Mumm S, Whyte MP (2006) Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood. Endocr Pract 12:676–681
    • (2006) Endocr Pract , vol.12 , pp. 676-681
    • Khandwala, H.M.1    Mumm, S.2    Whyte, M.P.3
  • 70
    • 0022968773 scopus 로고
    • Management of femoral fractures and pseudofractures in adult hypophosphatasia
    • COI: 1:STN:280:DyaL28zgsVGgsA%3D%3D, PID: 3745261
    • Coe JD, Murphy WA, Whyte MP (1986) Management of femoral fractures and pseudofractures in adult hypophosphatasia. J Bone Joint Surg Am 68:981–990
    • (1986) J Bone Joint Surg Am , vol.68 , pp. 981-990
    • Coe, J.D.1    Murphy, W.A.2    Whyte, M.P.3
  • 73
    • 0026742337 scopus 로고
    • Reduced bone mineral density and low parathyroid hormone levels in patients with the adult form of hypophosphatasia
    • PID: 1392424
    • Wüster C, Ziegler R (1992) Reduced bone mineral density and low parathyroid hormone levels in patients with the adult form of hypophosphatasia. Clin Investig 70:560–565
    • (1992) Clin Investig , vol.70 , pp. 560-565
    • Wüster, C.1    Ziegler, R.2
  • 74
    • 84859907817 scopus 로고    scopus 로고
    • "Atypical femoral fractures" during bisphosphonate exposure in adult hypophosphatasia
    • COI: 1:CAS:528:DC%2BC38Xls1aqtbY%3D, PID: 22322541
    • Sutton RA, Mumm S, Coburn SP, Ericson KL, Whyte MP (2012) "Atypical femoral fractures" during bisphosphonate exposure in adult hypophosphatasia. J Bone Miner Res 27:987–994
    • (2012) J Bone Miner Res , vol.27 , pp. 987-994
    • Sutton, R.A.1    Mumm, S.2    Coburn, S.P.3    Ericson, K.L.4    Whyte, M.P.5
  • 75
    • 66349093964 scopus 로고    scopus 로고
    • Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia
    • PID: 19113923
    • Whyte MP (2009) Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res 24:1132–1134
    • (2009) J Bone Miner Res , vol.24 , pp. 1132-1134
    • Whyte, M.P.1
  • 76
    • 57649214099 scopus 로고    scopus 로고
    • How can calcium pyrophosphate crystals induce inflammation in hypophosphatasia or chronic inflammatory joint diseases?
    • COI: 1:CAS:528:DC%2BD1cXhsV2ltrnP, PID: 18821074
    • Beck C, Morbach H, Richl P, Stenzel M, Girschick HJ (2009) How can calcium pyrophosphate crystals induce inflammation in hypophosphatasia or chronic inflammatory joint diseases? Rheumatol Int 29:229–238
    • (2009) Rheumatol Int , vol.29 , pp. 229-238
    • Beck, C.1    Morbach, H.2    Richl, P.3    Stenzel, M.4    Girschick, H.J.5
  • 78
    • 0027685921 scopus 로고
    • Hypophosphatasia: dental aspects and mode of inheritance
    • COI: 1:STN:280:DyaK2c%2Fktlylsw%3D%3D, PID: 8227447
    • Chapple IL (1993) Hypophosphatasia: dental aspects and mode of inheritance. J Clin Periodontol 20:615–622
    • (1993) J Clin Periodontol , vol.20 , pp. 615-622
    • Chapple, I.L.1
  • 80
    • 0023690329 scopus 로고
    • Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia
    • COI: 1:STN:280:DyaL1M%2FjtVyhsA%3D%3D, PID: 3181205
    • Royce PM, Blumberg A, Zurbrügg RP, Zimmermann A, Colombo JP, Steinmann B (1988) Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia. Eur J Pediatr 147:626–631
    • (1988) Eur J Pediatr , vol.147 , pp. 626-631
    • Royce, P.M.1    Blumberg, A.2    Zurbrügg, R.P.3    Zimmermann, A.4    Colombo, J.P.5    Steinmann, B.6
  • 81
    • 0036460377 scopus 로고    scopus 로고
    • Severe cleidocranial dysplasia can mimic hypophosphatasia
    • PID: 12424591
    • Unger S, Mornet E, Mundlos S, Blaser S, Cole DE (2002) Severe cleidocranial dysplasia can mimic hypophosphatasia. Eur J Pediatr 161:623–626
    • (2002) Eur J Pediatr , vol.161 , pp. 623-626
    • Unger, S.1    Mornet, E.2    Mundlos, S.3    Blaser, S.4    Cole, D.E.5
  • 82
  • 83
    • 19044367743 scopus 로고    scopus 로고
    • Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene
    • COI: 1:CAS:528:DC%2BD2MXjsFWis7Y%3D, PID: 15671102
    • Taillandier A, Sallinen S-L, Brun-Heath I, De Mazancourt P, Serre J-L, Mornet E (2005) Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene. J Clin Endocrinol Metab 90:2436–2439
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 2436-2439
    • Taillandier, A.1    Sallinen, S.-L.2    Brun-Heath, I.3    De Mazancourt, P.4    Serre, J.-L.5    Mornet, E.6
  • 85
    • 0015105105 scopus 로고
    • Radiological case of the month. Hypophosphatasia in the newborn
    • COI: 1:STN:280:DyaE3M3ms1SgtQ%3D%3D, PID: 4327541
    • Gwinn JL, Lee FA, Joshi NC, Dessai MP (1971) Radiological case of the month. Hypophosphatasia in the newborn. Am J Dis Child 122:151–152
    • (1971) Am J Dis Child , vol.122 , pp. 151-152
    • Gwinn, J.L.1    Lee, F.A.2    Joshi, N.C.3    Dessai, M.P.4
  • 86
    • 0026028011 scopus 로고
    • Radiographic manifestations of congenital anomalies of the skull
    • COI: 1:STN:280:DyaK3M7kvFGgtQ%3D%3D, PID: 1998047
    • Kaplan SB, Kemp SS, Oh KS (1991) Radiographic manifestations of congenital anomalies of the skull. Radiol Clin North Am 29:195–218
    • (1991) Radiol Clin North Am , vol.29 , pp. 195-218
    • Kaplan, S.B.1    Kemp, S.S.2    Oh, K.S.3
  • 89
    • 33847002736 scopus 로고    scopus 로고
    • Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy
    • PID: 17241478
    • Girschick HJ, Mornet E, Beer M, Warmuth-Metz M, Schneider P (2007) Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy. BMC Pediatr 7:3. doi:10.1186/1471-2431-7-3
    • (2007) BMC Pediatr , vol.7 , pp. 3
    • Girschick, H.J.1    Mornet, E.2    Beer, M.3    Warmuth-Metz, M.4    Schneider, P.5
  • 91
    • 80052551576 scopus 로고    scopus 로고
    • Whole-body MRI in the childhood form of hypophosphatasia
    • COI: 1:STN:280:DC%2BC3MfltlWrtQ%3D%3D, PID: 20383509
    • Beck C, Morbach H, Wirth C, Beer M, Girschick HJ (2011) Whole-body MRI in the childhood form of hypophosphatasia. Rheumatol Int 31:1315–1320
    • (2011) Rheumatol Int , vol.31 , pp. 1315-1320
    • Beck, C.1    Morbach, H.2    Wirth, C.3    Beer, M.4    Girschick, H.J.5
  • 92
    • 0021686709 scopus 로고
    • Hypophosphatasia and nephrocalcinosis demonstrated by ultrasound and CT
    • COI: 1:STN:280:DyaL2M7isFCquw%3D%3D, PID: 6396009
    • Sumner TE, Volberg FM, Karstaedt N, Ward CF, Lorentz WB (1984) Hypophosphatasia and nephrocalcinosis demonstrated by ultrasound and CT. Clin Nephrol 22:317–319
    • (1984) Clin Nephrol , vol.22 , pp. 317-319
    • Sumner, T.E.1    Volberg, F.M.2    Karstaedt, N.3    Ward, C.F.4    Lorentz, W.B.5
  • 93
    • 34248191819 scopus 로고    scopus 로고
    • Long-term follow-up of bone mineral density in childhood hypophosphatasia
    • PID: 17420150
    • Girschick HJ, Haubitz I, Hiort O, Schneider P (2007) Long-term follow-up of bone mineral density in childhood hypophosphatasia. Joint Bone Spine 74:263–269
    • (2007) Joint Bone Spine , vol.74 , pp. 263-269
    • Girschick, H.J.1    Haubitz, I.2    Hiort, O.3    Schneider, P.4
  • 94
    • 0030696783 scopus 로고    scopus 로고
    • Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals
    • COI: 1:STN:280:DyaK1c%2FmsF2ltg%3D%3D, PID: 9403706
    • Anderson HC, Hsu HH, Morris DC, Fedde KN, Whyte MP (1997) Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals. Am J Pathol 151:1555–1561
    • (1997) Am J Pathol , vol.151 , pp. 1555-1561
    • Anderson, H.C.1    Hsu, H.H.2    Morris, D.C.3    Fedde, K.N.4    Whyte, M.P.5
  • 97
    • 84948713410 scopus 로고    scopus 로고
    • Hypophosphatasia. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (eds). GeneReviews® [Internet] 1993-2014
    • Mornet E, Nunes ME (2011) Hypophosphatasia. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (eds). GeneReviews® [Internet] 1993-2014, Seattle. http://www.ncbi.nlm.nih.gov/books/NBK1150/
    • (2011) Seattle
    • Mornet, E.1    Nunes, M.E.2
  • 98
    • 33846943140 scopus 로고    scopus 로고
    • Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia
    • COI: 1:STN:280:DC%2BD28vntVyltA%3D%3D, PID: 16803637
    • Girschick HJ, Schneider P, Haubitz I, Hiort O, Collmann H, Beer M, Shin YS, Seyberth HW (2006) Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. Orphanet J Rare Dis 1:24. doi:10.1186/1750-1172-1-24
    • (2006) Orphanet J Rare Dis , vol.1 , pp. 24
    • Girschick, H.J.1    Schneider, P.2    Haubitz, I.3    Hiort, O.4    Collmann, H.5    Beer, M.6    Shin, Y.S.7    Seyberth, H.W.8
  • 99
    • 34147099203 scopus 로고    scopus 로고
    • Adult hypophosphatasia treated with teriparatide
    • COI: 1:CAS:528:DC%2BD2sXksVSrsL8%3D, PID: 17213282
    • Whyte MP, Mumm S, Deal C (2007) Adult hypophosphatasia treated with teriparatide. J Clin Endocrinol Metab 92:1203–1208
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 1203-1208
    • Whyte, M.P.1    Mumm, S.2    Deal, C.3
  • 100
    • 45849148915 scopus 로고    scopus 로고
    • Treatment of adult hypophosphatasia with teriparatide
    • PID: 18308659
    • Camacho PM, Painter S, Kadanoff R (2008) Treatment of adult hypophosphatasia with teriparatide. Endocr Pract 14:204–208
    • (2008) Endocr Pract , vol.14 , pp. 204-208
    • Camacho, P.M.1    Painter, S.2    Kadanoff, R.3
  • 101
    • 78650046620 scopus 로고    scopus 로고
    • Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia
    • PID: 20739387
    • Schalin-Jäntti C, Mornet E, Lamminen A, Välimäki MJ (2010) Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia. J Clin Endocrinol Metab 95:5174–5149
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 5149-5174
    • Schalin-Jäntti, C.1    Mornet, E.2    Lamminen, A.3    Välimäki, M.J.4
  • 103
    • 84868318153 scopus 로고    scopus 로고
    • Failure of teriparatide in treatment of bone complications of adult hypophosphatasia
    • COI: 1:CAS:528:DC%2BC38XisFGrtr4%3D, PID: 22218563
    • Laroche M (2012) Failure of teriparatide in treatment of bone complications of adult hypophosphatasia. Calcif Tissue Int 90:250
    • (2012) Calcif Tissue Int , vol.90 , pp. 250
    • Laroche, M.1
  • 104
    • 76749102085 scopus 로고    scopus 로고
    • Teriparatide treatment in adult hypophosphatasia in a patient exposed to bisphosphonate: a case report
    • PID: 22461258
    • Doshi KB, Hamrahian AH, Licata AA (2009) Teriparatide treatment in adult hypophosphatasia in a patient exposed to bisphosphonate: a case report. Clin Cases Miner Bone Metab 6:266–269
    • (2009) Clin Cases Miner Bone Metab , vol.6 , pp. 266-269
    • Doshi, K.B.1    Hamrahian, A.H.2    Licata, A.A.3
  • 105
    • 0033892896 scopus 로고    scopus 로고
    • Infantile hypophosphatasia: disappointing results of treatment
    • COI: 1:STN:280:DC%2BD3M%2FotFemug%3D%3D
    • Deeb AA, Bruce SN, Morris AAM, Cheetham TD (2000) Infantile hypophosphatasia: disappointing results of treatment. Acta Paedriatr 89:730–743
    • (2000) Acta Paedriatr , vol.89 , pp. 730-743
    • Deeb, A.A.1    Bruce, S.N.2    Morris, A.A.M.3    Cheetham, T.D.4
  • 106
    • 84874593733 scopus 로고    scopus 로고
    • Hypophosphatasia—pathophysiology and treatment
    • PID: 25254037
    • Millán JL, Plotkin H (2012) Hypophosphatasia—pathophysiology and treatment. Actual Osteol 8:164–182
    • (2012) Actual Osteol , vol.8 , pp. 164-182
    • Millán, J.L.1    Plotkin, H.2
  • 107
    • 58049164921 scopus 로고    scopus 로고
    • Neurosurgical aspects of childhood hypophosphatasia
    • COI: 1:STN:280:DC%2BD1M%2Fhs1Ckuw%3D%3D, PID: 18769927
    • Collmann H, Mornet E, Gattenlohner S, Beck C, Girschick H (2009) Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst 25:217–223
    • (2009) Childs Nerv Syst , vol.25 , pp. 217-223
    • Collmann, H.1    Mornet, E.2    Gattenlohner, S.3    Beck, C.4    Girschick, H.5
  • 110
    • 65549127189 scopus 로고    scopus 로고
    • New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia
    • COI: 1:CAS:528:DC%2BD1MXmtVahsL4%3D, PID: 19446101
    • Tadokoro M, Kanai R, Taketani T, Uchio Y, Yamaguchi S, Ohgushi H (2009) New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia. J Pediatr 154:924–930
    • (2009) J Pediatr , vol.154 , pp. 924-930
    • Tadokoro, M.1    Kanai, R.2    Taketani, T.3    Uchio, Y.4    Yamaguchi, S.5    Ohgushi, H.6
  • 113
    • 0019965925 scopus 로고
    • Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease
    • COI: 1:STN:280:DyaL383mvVektQ%3D%3D, PID: 7108657
    • Whyte MP, Valdes R Jr, Ryan LM, McAlister WH (1982) Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease. J Pediatr 101:379–386
    • (1982) J Pediatr , vol.101 , pp. 379-386
    • Whyte, M.P.1    Valdes, R.2    Ryan, L.M.3    McAlister, W.H.4
  • 114
    • 0024810414 scopus 로고
    • Biochemical and morphological effects of human hepatic alkaline phosphatase in a neonate with hypophosphatasia
    • COI: 1:STN:280:DyaK3czosF2iug%3D%3D, PID: 2642253
    • Weninger M, Stinson RA, Plenk H Jr, Böck P, Pollak A (1989) Biochemical and morphological effects of human hepatic alkaline phosphatase in a neonate with hypophosphatasia. Acta Paediatr Scand Suppl 360:154–160
    • (1989) Acta Paediatr Scand Suppl , vol.360 , pp. 154-160
    • Weninger, M.1    Stinson, R.A.2    Plenk, H.3    Böck, P.4    Pollak, A.5
  • 115
    • 0009761007 scopus 로고
    • Failure of hyperphosphatasemia by intravenous infusion of purified placental alkaline phosphatase (ALP) to correct severe hypophosphatasia: evidence against a role for circulating ALP in skeletal mineralization
    • Whyte MP, Habib D, Coburn SP, Tecklenburg F, Ryan L, Fedde KN, Stinson RA (1992) Failure of hyperphosphatasemia by intravenous infusion of purified placental alkaline phosphatase (ALP) to correct severe hypophosphatasia: evidence against a role for circulating ALP in skeletal mineralization. J Bone Miner Res 7(Suppl1):S155
    • (1992) J Bone Miner Res , vol.7 , pp. S155
    • Whyte, M.P.1    Habib, D.2    Coburn, S.P.3    Tecklenburg, F.4    Ryan, L.5    Fedde, K.N.6    Stinson, R.A.7
  • 120
    • 84865104399 scopus 로고    scopus 로고
    • Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy
    • PID: 22328548
    • Rodriguez E, Bober MB, Davey L, Zamora A, Li Puma AB, Chidekel A, Shaffer TH (2012) Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy. Pediatr Pulmonol 47:917–922
    • (2012) Pediatr Pulmonol , vol.47 , pp. 917-922
    • Rodriguez, E.1    Bober, M.B.2    Davey, L.3    Zamora, A.4    Li Puma, A.B.5    Chidekel, A.6    Shaffer, T.H.7
  • 122
    • 84948720423 scopus 로고    scopus 로고
    • Odrljin T; for the Study 003-08 Investigators (2014) Asfotase alfa: sustained efficacy and tolerability in infants and young children with life-threatening hypophosphatasia. Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting, Vancouver, BC, Canada
    • Whyte MP, Simmons JH, Bishop N, Lutz RE, Vallée M, Melian A, Odrljin T; for the Study 003-08 Investigators (2014) Asfotase alfa: sustained efficacy and tolerability in infants and young children with life-threatening hypophosphatasia. Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting, Vancouver, BC, Canada, May 3-6, 2014
    • (2014) May , pp. 3-6
    • Whyte, M.P.1    Simmons, J.H.2    Bishop, N.3    Lutz, R.E.4    Vallée, M.5    Melian, A.6
  • 123
    • 84948715260 scopus 로고    scopus 로고
    • Whyte MP; for the Study 008-10 Investigators (2014) Asfotase alfa: long-term safety and efficacy in children with hypophosphatasia. Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting, Vancouver, BC, Canada
    • Madson KL, Rockman-Greenberg C, Melian A, Moseley S, Odrljin T, Whyte MP; for the Study 008-10 Investigators (2014) Asfotase alfa: long-term safety and efficacy in children with hypophosphatasia. Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting, Vancouver, BC, Canada, May 3-6, 2014
    • (2014) May , pp. 3-6
    • Madson, K.L.1    Rockman-Greenberg, C.2    Melian, A.3    Moseley, S.4    Odrljin, T.5
  • 124
    • 84988034170 scopus 로고    scopus 로고
    • Asfotase alfa improves skeletal mineralization and respiratory function in infants and young children with hypophosphatasia: results from up to 12 months’ treatment. American College of Medical Genetics & Genomics Annual Meeting, Nashville, TN, USA
    • Rockman-Greenberg C, Vockley J, Harmatz P, Vallée M, Bedrosian CL, Hofmann C, Liese J (2014) Asfotase alfa improves skeletal mineralization and respiratory function in infants and young children with hypophosphatasia: results from up to 12 months’ treatment. American College of Medical Genetics & Genomics Annual Meeting, Nashville, TN, USA, March 25-29, 2014
    • (2014) March , vol.2014 , pp. 25-29
    • Rockman-Greenberg, C.1    Vockley, J.2    Harmatz, P.3    Vallée, M.4    Bedrosian, C.L.5    Hofmann, C.6    Liese, J.7
  • 125
    • 84988006223 scopus 로고    scopus 로고
    • Hypophosphatasia: enzyme replacement therapy (Asfotase alfa) decreases TNSALP substrate accumulation and improves functional outcome in affected adolescents and adults. American College of Medical Genetics and Genomics Annual Meeting, Charlotte, NC, USA
    • Kishnani PS, Rockman-Greenberg C, Whyte MP, Weber T, Mhanni A, Madson K, Reeves A, Mack K, Plotkin H, Kreher N, Landy H (2012) Hypophosphatasia: enzyme replacement therapy (Asfotase alfa) decreases TNSALP substrate accumulation and improves functional outcome in affected adolescents and adults. American College of Medical Genetics and Genomics Annual Meeting, Charlotte, NC, USA, March 27-31, 2012
    • (2012) March , vol.2012 , pp. 27-31
    • Kishnani, P.S.1    Rockman-Greenberg, C.2    Whyte, M.P.3    Weber, T.4    Mhanni, A.5    Madson, K.6    Reeves, A.7    Mack, K.8    Plotkin, H.9    Kreher, N.10    Landy, H.11


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.