-
1
-
-
0000034593
-
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
-
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
-
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
-
4
-
-
84884353430
-
Clinical aspects of hypophosphatasia: an update
-
COI: 1:CAS:528:DC%2BC3sXht1OnsrnL
-
Hofmann C, Girschick HJ, Mentrup B, Graser S, Seefried L, Liese J, Jakob F (2013) Clinical aspects of hypophosphatasia: an update. Clinic Rev Bone Miner Metab 11:60–70
-
(2013)
Clinic Rev Bone Miner Metab
, vol.11
, pp. 60-70
-
-
Hofmann, C.1
Girschick, H.J.2
Mentrup, B.3
Graser, S.4
Seefried, L.5
Liese, J.6
Jakob, F.7
-
5
-
-
37549013792
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
22
-
-
0023555528
-
Human placental and intestinal alkaline phosphatase genes map to 2q34eq37
-
COI: 1:CAS:528:DyaL1cXhtVOgsrg%3D, PID: 3687940
-
Griffin CA, Smith M, Henthorn PS, Harris H, Weiss MJ, Raducha M, Emanuel BS (1987) Human placental and intestinal alkaline phosphatase genes map to 2q34eq37. Am J Hum Genet 41:1025–1034
-
(1987)
Am J Hum Genet
, vol.41
, pp. 1025-1034
-
-
Griffin, C.A.1
Smith, M.2
Henthorn, P.S.3
Harris, H.4
Weiss, M.J.5
Raducha, M.6
Emanuel, B.S.7
-
23
-
-
79951813391
-
Clinical utility gene card for: hypophosphatasia
-
Mornet E, Beck C, Bloch-Zupan A, Girschick H, Le Merrer M (2011) Clinical utility gene card for: hypophosphatasia. Eur J Hum Genet 19. doi:10.1038/ejhg.2010.170
-
(2011)
Eur J Hum Genet
, pp. 19
-
-
Mornet, E.1
Beck, C.2
Bloch-Zupan, A.3
Girschick, H.4
Le Merrer, M.5
-
24
-
-
84896542151
-
Clinical utility gene card for: hypophosphatasia—update 2013
-
Mornet E, Hofmann C, Bloch-Zupan A, Girschick H, Le Merrer M (2014) Clinical utility gene card for: hypophosphatasia—update 2013. Eur J Hum Genet 22. doi: 10.1038/ejhg.2013.177
-
(2014)
Eur J Hum Genet
, pp. 22
-
-
Mornet, E.1
Hofmann, C.2
Bloch-Zupan, A.3
Girschick, H.4
Le Merrer, M.5
-
25
-
-
67649868096
-
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
-
26
-
-
0034202464
-
Characterization of a family with dominant hypophosphatasia
-
COI: 1:STN:280:DC%2BD3cvntVequg%3D%3D, PID: 10872988
-
Hu JC, Plaetke R, Mornet E, Zhang C, Sun X, Thomas HF, Simmer JP (2000) Characterization of a family with dominant hypophosphatasia. Eur J Oral Sci 108:189–194
-
(2000)
Eur J Oral Sci
, vol.108
, pp. 189-194
-
-
Hu, J.C.1
Plaetke, R.2
Mornet, E.3
Zhang, C.4
Sun, X.5
Thomas, H.F.6
Simmer, J.P.7
-
27
-
-
42149118918
-
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
-
28
-
-
17844390642
-
A molecular approach to dominance in hypophosphatasia
-
COI: 1:CAS:528:DC%2BD3MXltlGqt7c%3D, PID: 11479741
-
Lia-Baldini AS, Muller F, Taillandier A, Gibrat JF, Mouchard M, Robin B, Simon-Bouy B, Serre JL, Aylsworth AS, Bieth E, Delanote S, Freisinger P, Hu JC, Krohn HP, Nunes ME, Mornet E (2001) A molecular approach to dominance in hypophosphatasia. Hum Genet 109:99–108
-
(2001)
Hum Genet
, vol.109
, pp. 99-108
-
-
Lia-Baldini, A.S.1
Muller, F.2
Taillandier, A.3
Gibrat, J.F.4
Mouchard, M.5
Robin, B.6
Simon-Bouy, B.7
Serre, J.L.8
Aylsworth, A.S.9
Bieth, E.10
Delanote, S.11
Freisinger, P.12
Hu, J.C.13
Krohn, H.P.14
Nunes, M.E.15
Mornet, E.16
-
29
-
-
84927020221
-
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
-
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
-
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
-
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
-
34
-
-
0025181430
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
50
-
-
33644644712
-
Cementum and dentin in hypophosphatasia
-
PID: 16246934
-
van den Bos T, Handoko G, Niehof A, Ryan LM, Coburn SP, Whyte MP, Beertsen W (2005) Cementum and dentin in hypophosphatasia. J Dent Res 84:1021–1025
-
(2005)
J Dent Res
, vol.84
, pp. 1021-1025
-
-
van den Bos, T.1
Handoko, G.2
Niehof, A.3
Ryan, L.M.4
Coburn, S.P.5
Whyte, M.P.6
Beertsen, W.7
-
51
-
-
0030198676
-
Hypophosphatasia affecting the permanent dentition
-
COI: 1:STN:280:DyaK2s%2FktFyisg%3D%3D, PID: 8887081
-
Olsson A, Matsson L, Blomquist HK, Larsson A, Sjodin B (1996) Hypophosphatasia affecting the permanent dentition. J Oral Pathol Med 25:343–347
-
(1996)
J Oral Pathol Med
, vol.25
, pp. 343-347
-
-
Olsson, A.1
Matsson, L.2
Blomquist, H.K.3
Larsson, A.4
Sjodin, B.5
-
52
-
-
0015802288
-
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
-
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
-
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
-
55
-
-
0021324071
-
Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms
-
COI: 1:STN:280:DyaL2c%2Fpt1Kjuw%3D%3D
-
Fallon MD, Teitelbaum SL, Weinstein RS, Goldfischer S, Brown DM, Whyte MP (1984) Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. Medicine (Baltimore) 63:12–24
-
(1984)
Medicine (Baltimore)
, vol.63
, pp. 12-24
-
-
Fallon, M.D.1
Teitelbaum, S.L.2
Weinstein, R.S.3
Goldfischer, S.4
Brown, D.M.5
Whyte, M.P.6
-
56
-
-
0001594259
-
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
-
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
-
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
-
59
-
-
33847647503
-
Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia
-
PID: 17384481
-
Watanabe A, Yamamasu S, Shinagawa T, Suzuki Y, Miyake H, Takeshita T, Orimo H, Shimada T (2007) Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia. J Nippon Med Sch 74:65–69
-
(2007)
J Nippon Med Sch
, vol.74
, pp. 65-69
-
-
Watanabe, A.1
Yamamasu, S.2
Shinagawa, T.3
Suzuki, Y.4
Miyake, H.5
Takeshita, T.6
Orimo, H.7
Shimada, T.8
-
60
-
-
0033615461
-
Mild autosomal dominant hypophosphatasia: in utero presentation in two families
-
COI: 1:STN:280:DyaK1MvjvFGitA%3D%3D, PID: 10508980
-
Moore CA, Curry CJ, Henthorn PS, Smith JA, Smith JC, O'Lague P, Coburn SP, Weaver DD, Whyte MP (1999) Mild autosomal dominant hypophosphatasia: in utero presentation in two families. Am J Med Genet 86:410–415
-
(1999)
Am J Med Genet
, vol.86
, pp. 410-415
-
-
Moore, C.A.1
Curry, C.J.2
Henthorn, P.S.3
Smith, J.A.4
Smith, J.C.5
O'Lague, P.6
Coburn, S.P.7
Weaver, D.D.8
Whyte, M.P.9
-
61
-
-
0033615462
-
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
-
-
84899436027
-
Benign prenatal hypophosphatasia: a treatable disease not to be missed
-
PID: 24145968
-
Matsushita M, Kitoh H, Michigami T, Tachikawa K, Ishiguro N (2014) Benign prenatal hypophosphatasia: a treatable disease not to be missed. Pediatr Radiol 44:340–343
-
(2014)
Pediatr Radiol
, vol.44
, pp. 340-343
-
-
Matsushita, M.1
Kitoh, H.2
Michigami, T.3
Tachikawa, K.4
Ishiguro, N.5
-
63
-
-
0034335426
-
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
-
64
-
-
80053176676
-
Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)
-
COI: 1:CAS:528:DC%2BC3MXht1yitLbN, PID: 21713987
-
Wenkert D, McAlister WH, Coburn SP, Zerega JA, Ryan LM, Ericson KL, Hersh JH, Mumm S, Whyte MP (2011) Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review). J Bone Miner Res 26:2389–2398
-
(2011)
J Bone Miner Res
, vol.26
, pp. 2389-2398
-
-
Wenkert, D.1
McAlister, W.H.2
Coburn, S.P.3
Zerega, J.A.4
Ryan, L.M.5
Ericson, K.L.6
Hersh, J.H.7
Mumm, S.8
Whyte, M.P.9
-
65
-
-
84862978180
-
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
-
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
-
67
-
-
67349156372
-
Hypophosphatasia may lead to bone fragility: don't miss it
-
PID: 18818947
-
Moulin P, Vaysse F, Bieth E, Mornet E, Gennero I, Dalicieux-Laurencin S, Baunin C, Tauber MT, De Gauzy JS, Salles JP (2009) Hypophosphatasia may lead to bone fragility: don't miss it. Eur J Pediatr 168:783–788
-
(2009)
Eur J Pediatr
, vol.168
, pp. 783-788
-
-
Moulin, P.1
Vaysse, F.2
Bieth, E.3
Mornet, E.4
Gennero, I.5
Dalicieux-Laurencin, S.6
Baunin, C.7
Tauber, M.T.8
De Gauzy, J.S.9
Salles, J.P.10
-
68
-
-
84873541157
-
Clinical spectrum of hypophosphatasia diagnosed in adults
-
COI: 1:CAS:528:DC%2BC3sXktlGls7s%3D, PID: 23352924
-
Berkseth KE, Tebben PJ, Drake MT, Hefferan TE, Jewison DE, Wermers RA (2013) Clinical spectrum of hypophosphatasia diagnosed in adults. Bone 54:21–27
-
(2013)
Bone
, vol.54
, pp. 21-27
-
-
Berkseth, K.E.1
Tebben, P.J.2
Drake, M.T.3
Hefferan, T.E.4
Jewison, D.E.5
Wermers, R.A.6
-
69
-
-
33847748635
-
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
-
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
-
71
-
-
84948719617
-
An unusual stress fracture in an archer with hypophosphatasia
-
PID: 24383027
-
Yavuz U, Sökücü S, Demir B, Akpjnar E, Lapçin O, Atjcj Y, Kabukçuoglu Y (2013) An unusual stress fracture in an archer with hypophosphatasia. Case Rep Orthop 2013:350236. doi:10.1155/2013/350236
-
(2013)
Case Rep Orthop
, vol.2013
, pp. 350236
-
-
Yavuz, U.1
Sökücü, S.2
Demir, B.3
Akpjnar, E.4
Lapçin, O.5
Atjcj, Y.6
Kabukçuoglu, Y.7
-
72
-
-
80755136582
-
Skeletal mineralization defects in adult hypophosphatasia—a clinical and histological analysis
-
COI: 1:STN:280:DC%2BC3MfitVOlsg%3D%3D, PID: 21267545
-
Barvencik F, Beil FT, Gebauer M, Busse B, Koehne T, Seitz S, Zustin J, Pogoda P, Schinke T, Amling M (2011) Skeletal mineralization defects in adult hypophosphatasia—a clinical and histological analysis. Osteoporos Int 22:2667–2675
-
(2011)
Osteoporos Int
, vol.22
, pp. 2667-2675
-
-
Barvencik, F.1
Beil, F.T.2
Gebauer, M.3
Busse, B.4
Koehne, T.5
Seitz, S.6
Zustin, J.7
Pogoda, P.8
Schinke, T.9
Amling, M.10
-
73
-
-
0026742337
-
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
-
"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
-
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
-
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
-
77
-
-
84897883412
-
Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters
-
PID: 24123110
-
Guañabens N, Mumm S, Möller I, González-Roca E, Peris P, Demertzis JL, Whyte MP (2014) Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters. J Bone Miner Res 29:929–934
-
(2014)
J Bone Miner Res
, vol.29
, pp. 929-934
-
-
Guañabens, N.1
Mumm, S.2
Möller, I.3
González-Roca, E.4
Peris, P.5
Demertzis, J.L.6
Whyte, M.P.7
-
78
-
-
0027685921
-
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
-
79
-
-
0041326321
-
Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene
-
COI: 1:CAS:528:DC%2BD3sXnslGmt7w%3D
-
Herasse M, Spentchian M, Taillandier A, Keppler-Noreuil K, Fliorito AN, Bergoffen J, Wallerstein R, Muti C, Simon-Bouy B, Mornet E (2003) Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene. J Med Gen 40:605–609
-
(2003)
J Med Gen
, vol.40
, pp. 605-609
-
-
Herasse, M.1
Spentchian, M.2
Taillandier, A.3
Keppler-Noreuil, K.4
Fliorito, A.N.5
Bergoffen, J.6
Wallerstein, R.7
Muti, C.8
Simon-Bouy, B.9
Mornet, E.10
-
80
-
-
0023690329
-
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
-
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
-
-
14044268243
-
Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin
-
COI: 1:CAS:528:DC%2BD2MXhsVCgurk%3D, PID: 15562030
-
Wyckoff MH, El-Turk C, Laptook A, Timmons C, Gannon FH, Zhang X, Mumm S, Whyte MP (2005) Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin. J Clin Endocrinol Metab 90:1233–1240
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 1233-1240
-
-
Wyckoff, M.H.1
El-Turk, C.2
Laptook, A.3
Timmons, C.4
Gannon, F.H.5
Zhang, X.6
Mumm, S.7
Whyte, M.P.8
-
83
-
-
19044367743
-
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
-
84
-
-
57349107355
-
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling
-
PID: 18925618
-
Simon-Bouy B, Taillandier A, Fauvert D, Brun-Heath I, Serre JL, Armengod CG, Bialer MG, Mathieu M, Cousin J, Chitayat D, Liebelt J, Feldman B, Gérard-Blanluet M, Körtge-Jung S, King C, Laivuori H, Le Merrer M, Mehta S, Jern C, Sharif S, Prieur F, Gillessen-Kaesbach G, Zankl A, Mornet E (2008) Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. Prenat Diagn 28:993–998
-
(2008)
Prenat Diagn
, vol.28
, pp. 993-998
-
-
Simon-Bouy, B.1
Taillandier, A.2
Fauvert, D.3
Brun-Heath, I.4
Serre, J.L.5
Armengod, C.G.6
Bialer, M.G.7
Mathieu, M.8
Cousin, J.9
Chitayat, D.10
Liebelt, J.11
Feldman, B.12
Gérard-Blanluet, M.13
Körtge-Jung, S.14
King, C.15
Laivuori, H.16
Le Merrer, M.17
Mehta, S.18
Jern, C.19
Sharif, S.20
Prieur, F.21
Gillessen-Kaesbach, G.22
Zankl, A.23
Mornet, E.24
more..
-
85
-
-
0015105105
-
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
-
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
-
87
-
-
1842731079
-
The infant skull: a vault of information
-
PID: 15026597
-
Glass RB, Fernbach SK, Norton KI, Choi PS, Naidich TP (2004) The infant skull: a vault of information. Radiographics 24:507–522
-
(2004)
Radiographics
, vol.24
, pp. 507-522
-
-
Glass, R.B.1
Fernbach, S.K.2
Norton, K.I.3
Choi, P.S.4
Naidich, T.P.5
-
88
-
-
0017058674
-
Hypophosphatasia. Review of 24 cases
-
Kozlowski K, Sutcliffe J, Barylak A, Harrington G, Kemperdick H, Nolte K, Rheinwein H, Thomas PS, Uniecke W (1976) Hypophosphatasia. Review of 24 cases. Pediatr Radiol 15:103–117
-
(1976)
Pediatr Radiol
, vol.15
, pp. 103-117
-
-
Kozlowski, K.1
Sutcliffe, J.2
Barylak, A.3
Harrington, G.4
Kemperdick, H.5
Nolte, K.6
Rheinwein, H.7
Thomas, P.S.8
Uniecke, W.9
-
89
-
-
33847002736
-
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
-
90
-
-
68949100637
-
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia
-
PID: 19335222
-
Whyte MP, Wenkert D, McAlister WH, Mughal MZ, Freemont AJ, Whitehouse R, Baildam EM, Coburn SP, Ryan LM, Mumm S (2009) Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. J Bone Miner Res 24:1493–1505
-
(2009)
J Bone Miner Res
, vol.24
, pp. 1493-1505
-
-
Whyte, M.P.1
Wenkert, D.2
McAlister, W.H.3
Mughal, M.Z.4
Freemont, A.J.5
Whitehouse, R.6
Baildam, E.M.7
Coburn, S.P.8
Ryan, L.M.9
Mumm, S.10
-
91
-
-
80052551576
-
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
-
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
-
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
-
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
-
96
-
-
4243596481
-
Dietary phosphate restriction therapy for hypophosphatasia: preliminary observations
-
Wenkert D, Podgornik MN, Coburn SP, Ryan LM, Mumm S, Whyte MP (2002) Dietary phosphate restriction therapy for hypophosphatasia: preliminary observations. J Bone Miner Res 17(suppl 1):S384
-
(2002)
J Bone Miner Res
, vol.17
, pp. S384
-
-
Wenkert, D.1
Podgornik, M.N.2
Coburn, S.P.3
Ryan, L.M.4
Mumm, S.5
Whyte, M.P.6
-
97
-
-
84948713410
-
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
-
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
-
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
-
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
-
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
-
102
-
-
77749267713
-
Lack of sustained response to teriparatide in a patient with adult hypophosphatasia
-
COI: 1:CAS:528:DC%2BC3cXjs1KqsLg%3D, PID: 20089612
-
Gagnon C, Sims NA, Mumm S, McAuley SA, Jung C, Poulton IJ, Ng KW, Ebeling PR (2010) Lack of sustained response to teriparatide in a patient with adult hypophosphatasia. J Clin Endocrinol Metab 95:1007–1012
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 1007-1012
-
-
Gagnon, C.1
Sims, N.A.2
Mumm, S.3
McAuley, S.A.4
Jung, C.5
Poulton, I.J.6
Ng, K.W.7
Ebeling, P.R.8
-
103
-
-
84868318153
-
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
-
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
-
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
-
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
-
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
-
108
-
-
0041805439
-
Marrow cell transplantation for infantile hypophosphatasia
-
PID: 12674323
-
Whyte MP, Kurtzberg J, McAlister WH, Mumm S, Podgornik MN, Coburn SP, Ryan LM, Miller CR, Gottesman GS, Smith AK, Douville J, Waters-Pick B, Armstrong RD, Martin PL (2003) Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res 18:624–636
-
(2003)
J Bone Miner Res
, vol.18
, pp. 624-636
-
-
Whyte, M.P.1
Kurtzberg, J.2
McAlister, W.H.3
Mumm, S.4
Podgornik, M.N.5
Coburn, S.P.6
Ryan, L.M.7
Miller, C.R.8
Gottesman, G.S.9
Smith, A.K.10
Douville, J.11
Waters-Pick, B.12
Armstrong, R.D.13
Martin, P.L.14
-
109
-
-
34547743240
-
Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts
-
COI: 1:CAS:528:DC%2BD2sXptl2hs78%3D, PID: 17519318
-
Cahill RA, Wenkert D, Perlman SA, Steele A, Coburn SP, McAlister WH, Mumm S, Whyte MP (2007) Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts. J Clin Endocrinol Metab 92:2923–2930
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 2923-2930
-
-
Cahill, R.A.1
Wenkert, D.2
Perlman, S.A.3
Steele, A.4
Coburn, S.P.5
McAlister, W.H.6
Mumm, S.7
Whyte, M.P.8
-
110
-
-
65549127189
-
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
-
111
-
-
84879408245
-
Therapy-related Ph+ leukemia after both bone marrow and mesenchymal stem cell transplantation for hypophosphatasia
-
PID: 23782379
-
Taketani T, Kanai R, Abe M, Mishima S, Tadokoro M, Katsube Y, Yuba S, Ogushi H, Fukuda S, Yamaguchi S (2013) Therapy-related Ph+ leukemia after both bone marrow and mesenchymal stem cell transplantation for hypophosphatasia. Pediatr Int 55:e52–5. doi:10.1111/ped.12012
-
(2013)
Pediatr Int
, vol.55
, pp. e52-e55
-
-
Taketani, T.1
Kanai, R.2
Abe, M.3
Mishima, S.4
Tadokoro, M.5
Katsube, Y.6
Yuba, S.7
Ogushi, H.8
Fukuda, S.9
Yamaguchi, S.10
-
112
-
-
84945554584
-
Ex vivo expanded allogeneic mesenchymal stem cells with bone marrow transplantation improved osteogenesis in infants with severe hypophosphatasia
-
Taketani T, Oyama C, Mihara A, Tanabe Y, Abe M, Hirade T, Yamamoto S, Bo R, Kanai R, Tadenuma T, Michibata Y, Yamamoto S, Hattori M, Katsube Y, Ohnishi H, Sasao M, Oda Y, Hattori K, Yuba S, Ohgushi H, Yamaguchi S (2014) Ex vivo expanded allogeneic mesenchymal stem cells with bone marrow transplantation improved osteogenesis in infants with severe hypophosphatasia. Cell Transplant
-
(2014)
Cell Transplant
-
-
Taketani, T.1
Oyama, C.2
Mihara, A.3
Tanabe, Y.4
Abe, M.5
Hirade, T.6
Yamamoto, S.7
Bo, R.8
Kanai, R.9
Tadenuma, T.10
Michibata, Y.11
Yamamoto, S.12
Hattori, M.13
Katsube, Y.14
Ohnishi, H.15
Sasao, M.16
Oda, Y.17
Hattori, K.18
Yuba, S.19
Ohgushi, H.20
Yamaguchi, S.21
more..
-
113
-
-
0019965925
-
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
-
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
-
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
-
116
-
-
44449145465
-
Enzyme replacement therapy for murine hypophosphatasia
-
PID: 18086009
-
Millán JL, Narisawa S, Lemire I, Loisel TP, Boileau G, Leonard P, Gramatikova S, Terkeltaub R, Pleshko Camacho N, McKee MD, Crine P, Whyte MP (2008) Enzyme replacement therapy for murine hypophosphatasia. J Bone Miner Res 23:777–787
-
(2008)
J Bone Miner Res
, vol.23
, pp. 777-787
-
-
Millán, J.L.1
Narisawa, S.2
Lemire, I.3
Loisel, T.P.4
Boileau, G.5
Leonard, P.6
Gramatikova, S.7
Terkeltaub, R.8
Pleshko Camacho, N.9
McKee, M.D.10
Crine, P.11
Whyte, M.P.12
-
117
-
-
79954604148
-
Enzyme replacement prevents dental defects in a mouse model of hypophosphatasia
-
COI: 1:CAS:528:DC%2BC3MXltVKhsbg%3D, PID: 21212313
-
McKee MD, Nakano Y, Masica DL, Gray JJ, Lemire I, Heft R, Whyte MP, Crine P, Millán JL (2011) Enzyme replacement prevents dental defects in a mouse model of hypophosphatasia. J Dent Res J Dent Res 90:470–476
-
(2011)
J Dent Res J Dent Res
, vol.90
, pp. 470-476
-
-
McKee, M.D.1
Nakano, Y.2
Masica, D.L.3
Gray, J.J.4
Lemire, I.5
Heft, R.6
Whyte, M.P.7
Crine, P.8
Millán, J.L.9
-
118
-
-
79958766377
-
Dose response of bone-targeted enzyme replacement for murine hypophosphatasia
-
COI: 1:CAS:528:DC%2BC3MXnslSnsbw%3D, PID: 21458605
-
Yadav MC, Lemire I, Leonard P, Boileau G, Blond L, Beliveau M, Cory E, Sah RL, Whyte MP, Crine P, Millán JL (2011) Dose response of bone-targeted enzyme replacement for murine hypophosphatasia. Bone 49:250–256
-
(2011)
Bone
, vol.49
, pp. 250-256
-
-
Yadav, M.C.1
Lemire, I.2
Leonard, P.3
Boileau, G.4
Blond, L.5
Beliveau, M.6
Cory, E.7
Sah, R.L.8
Whyte, M.P.9
Crine, P.10
Millán, J.L.11
-
119
-
-
84872434579
-
Tooth root dentin mineralization defects in a mouse model of hypophosphatasia
-
COI: 1:CAS:528:DC%2BC3sXhtV2itLg%3D, PID: 22991301
-
Foster BL, Nagatomo KJ, Tso HW, Tran AB, Nociti FH Jr, Narisawa S, Yadav MC, McKee MD, Millán JI, Somerman MJ (2013) Tooth root dentin mineralization defects in a mouse model of hypophosphatasia. J Bone Miner Res 28:271–82
-
(2013)
J Bone Miner Res
, vol.28
, pp. 271-282
-
-
Foster, B.L.1
Nagatomo, K.J.2
Tso, H.W.3
Tran, A.B.4
Nociti, F.H.5
Narisawa, S.6
Yadav, M.C.7
McKee, M.D.8
Millán, J.I.9
Somerman, M.J.10
-
120
-
-
84865104399
-
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
-
121
-
-
84863393533
-
Enzyme-replacement therapy in life-threatening hypophosphatasia
-
COI: 1:CAS:528:DC%2BC38XktFOgtbY%3D, PID: 22397652
-
Whyte MP, Greenberg CR, Salman NJ, Bober MB, McAlister WH, Wenkert D, Van Sickle BJ, Simmons JH, Edgar TS, Bauer ML, Hamdan MA, Bishop N, Lutz RE, McGinn M, Craig S, Moore JN, Taylor JW, Cleveland RH, Cranley WR, Lim R, Thacher TD, Mayhew JE, Downs M, Millán JL, Skrinar AM, Crine P, Landy H (2012) Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med 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
Bober, M.B.4
McAlister, W.H.5
Wenkert, D.6
Van Sickle, B.J.7
Simmons, J.H.8
Edgar, T.S.9
Bauer, M.L.10
Hamdan, M.A.11
Bishop, N.12
Lutz, R.E.13
McGinn, M.14
Craig, S.15
Moore, J.N.16
Taylor, J.W.17
Cleveland, R.H.18
Cranley, W.R.19
Lim, R.20
Thacher, T.D.21
Mayhew, J.E.22
Downs, M.23
Millán, J.L.24
Skrinar, A.M.25
Crine, P.26
Landy, H.27
more..
-
122
-
-
84948720423
-
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
-
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
-
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
-
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
|