-
1
-
-
0001206301
-
Hypophosphatasia
-
Fraser D. Hypophosphatasia. Am J Med 1957, 22:730-746.
-
(1957)
Am J Med
, vol.22
, pp. 730-746
-
-
Fraser, D.1
-
2
-
-
0001594259
-
Hypophosphatasia
-
McGraw-Hill, New-York, N.Y., U.S.A. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.)
-
Whyte M.P. Hypophosphatasia. The metabolic and molecular bases of inherited disease 2001, 5313-5329. McGraw-Hill, New-York, N.Y., U.S.A. 8th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
-
(2001)
The metabolic and molecular bases of inherited disease
, pp. 5313-5329
-
-
Whyte, M.P.1
-
3
-
-
84882522447
-
Hypophosphatasia: nature's window on alkaline phosphatase function in humans
-
Academic Press, San Diego, California, J.P. Bilezikian, L.G. Raisz, T.J. Martin (Eds.)
-
Whyte M.P. Hypophosphatasia: nature's window on alkaline phosphatase function in humans. Principles of bone biology 2008, 1573-1598. Academic Press, San Diego, California. 3rd ed. J.P. Bilezikian, L.G. Raisz, T.J. Martin (Eds.).
-
(2008)
Principles of bone biology
, pp. 1573-1598
-
-
Whyte, M.P.1
-
4
-
-
0011322884
-
A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia
-
Weiss M.J., Cole D.E., Ray K., Whyte M.P., Lafferty M.A., Mulivor R.A., Harris H. A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci U S A 1988, 85:7666-7669.
-
(1988)
Proc Natl Acad Sci U S A
, vol.85
, pp. 7666-7669
-
-
Weiss, M.J.1
Cole, D.E.2
Ray, K.3
Whyte, M.P.4
Lafferty, M.A.5
Mulivor, R.A.6
Harris, H.7
-
5
-
-
0027062860
-
Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia
-
Henthorn P.S., Whyte M.P. Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia. Clin Chem 1992, 38:2501-2505.
-
(1992)
Clin Chem
, vol.38
, pp. 2501-2505
-
-
Henthorn, P.S.1
Whyte, M.P.2
-
6
-
-
0026713191
-
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia
-
Henthorn P.S., Raducha M., Fedde K.N., Lafferty M.A., Whyte M.P. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Natl Acad Sci U S A 1992, 89:9924-9928.
-
(1992)
Proc Natl Acad Sci U S A
, vol.89
, pp. 9924-9928
-
-
Henthorn, P.S.1
Raducha, M.2
Fedde, K.N.3
Lafferty, M.A.4
Whyte, M.P.5
-
7
-
-
0021324071
-
Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms
-
Fallon M.D., Teitelbaum S.L., Weinstein R.S., Goldfischer S., Brown D.M., Whyte M.P. Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. Medicine 1984, 63:12-24.
-
(1984)
Medicine
, 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
-
8
-
-
1842409589
-
Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia
-
Narisawa S., Fröhlander N., Millán J.L. Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia. Dev Dyn 1997, 208:432-446.
-
(1997)
Dev Dyn
, vol.208
, pp. 432-446
-
-
Narisawa, S.1
Fröhlander, N.2
Millán, J.L.3
-
9
-
-
0033386205
-
Alkaline phosphatase knockout mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia
-
Fedde K.N., Blair L., Silverstein J., Coburn S.P., Ryan L.M., Weinstein R.S., Waymire K., Narisawa S., Millán J.L., MacGregor G.R., Whyte M.P. Alkaline phosphatase knockout mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia. J Bone Miner Res 1999, 14:2015-2026.
-
(1999)
J Bone Miner Res
, vol.14
, pp. 2015-2026
-
-
Fedde, K.N.1
Blair, L.2
Silverstein, J.3
Coburn, S.P.4
Ryan, L.M.5
Weinstein, R.S.6
Waymire, K.7
Narisawa, S.8
Millán, J.L.9
MacGregor, G.R.10
Whyte, M.P.11
-
10
-
-
0029115393
-
Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6
-
Waymire K.G., Mahuren J.D., Jaje J.M., Guilarte T.R., Coburn S.P., MacGregor G.R. Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. Nat Genet 1995, 11:45-51.
-
(1995)
Nat Genet
, vol.11
, pp. 45-51
-
-
Waymire, K.G.1
Mahuren, J.D.2
Jaje, J.M.3
Guilarte, T.R.4
Coburn, S.P.5
MacGregor, G.R.6
-
11
-
-
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
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Baumgartner-Sigl S., Haberlandt E., Mumm S., Scholl-Bürgi S., Sergi C., Ryan L., Ericson K.L., Whyte M.P., Högler Wl Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. Bone 2007, 40:1655-1661.
-
(2007)
Bone
, vol.40
, pp. 1655-1661
-
-
Baumgartner-Sigl, S.1
Haberlandt, E.2
Mumm, S.3
Scholl-Bürgi, S.4
Sergi, C.5
Ryan, L.6
Ericson, K.L.7
Whyte, M.P.8
Högler, W.9
-
12
-
-
0035160863
-
Abnormal vitamin B6 metabolism in alkaline phosphatase knock-out mice causes multiple abnormalities, but not the impaired bone mineralization
-
Narisawa S., Wennberg C., Millán J.L. Abnormal vitamin B6 metabolism in alkaline phosphatase knock-out mice causes multiple abnormalities, but not the impaired bone mineralization. J Pathol 2001, 193:125-133.
-
(2001)
J Pathol
, vol.193
, pp. 125-133
-
-
Narisawa, S.1
Wennberg, C.2
Millán, J.L.3
-
13
-
-
0021339769
-
Can biological calcification occur in the presence of pyrophosphate?
-
Meyer J.L. Can biological calcification occur in the presence of pyrophosphate?. Arch Biochem Biophys 1984, 231:1-8.
-
(1984)
Arch Biochem Biophys
, vol.231
, pp. 1-8
-
-
Meyer, J.L.1
-
14
-
-
0037047051
-
Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization
-
Hessle L., Johnson K.A., Anderson H.C., Narisawa S., Sali A., Goding J.W., Terkeltaub R., Millán J.L. Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization. Proc Natl Acad Sci U S A 2002, 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
Millán, J.L.8
-
15
-
-
1642313676
-
Concerted regulation of inorganic pyrophosphate and osteopontin by Akp2, Enpp1 and Ank. An integrated model of the pathogenesis of mineralization disorders
-
Harmey D., Hessle L., Narisawa S., Johnson K.A., Terkeltaub R., Millán J.L. Concerted regulation of inorganic pyrophosphate and osteopontin by Akp2, Enpp1 and Ank. An integrated model of the pathogenesis of mineralization disorders. Am J Pathol 2004, 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
Millán, J.L.6
-
16
-
-
18244392685
-
Broadly expressed genes accounts for the special restriction of ECM mineralization to bone
-
Murshed M., Harmey D., Millán J.L., McKee M.D., Karsenty G. Broadly expressed genes accounts for the special restriction of ECM mineralization to bone. Genes Dev 2005, 19:1093-1104.
-
(2005)
Genes Dev
, vol.19
, pp. 1093-1104
-
-
Murshed, M.1
Harmey, D.2
Millán, J.L.3
McKee, M.D.4
Karsenty, G.5
-
17
-
-
33748082636
-
-/- mice
-
-/- mice. J Bone Miner Res 2006, 21:1377-1386.
-
(2006)
J Bone Miner Res
, vol.21
, pp. 1377-1386
-
-
Harmey, D.1
Johnson, K.A.2
Zelken, J.3
Camacho, N.P.4
Hoylaerts, M.F.5
Noda, M.6
Terkeltaub, R.7
Millán, J.L.8
-
19
-
-
0019965925
-
Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease
-
Whyte M.P., Valdes R., Ryan L.M., McAlister W.H. Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease. J Pediatr 1982, 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
-
20
-
-
0021719343
-
Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients
-
Whyte M.P., McAlister W.H., Patton L.S., Magill H.L., Fallon M.D., Lorentz W.B., Herrod H.G. Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients. J Pediatr 1984, 105:926-933.
-
(1984)
J Pediatr
, vol.105
, pp. 926-933
-
-
Whyte, M.P.1
McAlister, W.H.2
Patton, L.S.3
Magill, H.L.4
Fallon, M.D.5
Lorentz, W.B.6
Herrod, H.G.7
-
21
-
-
0024810414
-
Biochemical and morphological effects of human hepatic alkaline phosphatase in a neonate with hypophosphatasia
-
Weninger M., Stinson R.A., Plenk H., Böck P., Pollak A. Biochemical and morphological effects of human hepatic alkaline phosphatase in a neonate with hypophosphatasia. Acta Paediatr Scand Suppl 1989, 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
-
22
-
-
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 M.P., Habib D., Coburn S.P., Tecklenburg F., Ryan L., Fedde K.N., Stinson R.A. 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 1992, 7(Suppl 1):S155.
-
(1992)
J Bone Miner Res
, vol.7
, Issue.SUPPL 1
-
-
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
-
23
-
-
44449145465
-
Enzyme replacement therapy for murine hypophosphatasia
-
Millán J.L., Narisawa S., Lemire I., Loisel T.P., Boileau G., Leonard P., Gramatikova S., Terkeltaub R., Pleshko Camacho N., McKee M.D., Crine P., Whyte M.P. Enzyme replacement therapy for murine hypophosphatasia. J Bone Miner Res 2008, 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
-
24
-
-
79954604148
-
Enzyme replacement prevents dental defects in a mouse model of hypophosphatasia
-
McKee M.D., Nakano Y., Masica D.L., Gray J.J., Lemire I., Heft R., Whyte M.P., Crine P., Millán J.L. Enzyme replacement prevents dental defects in a mouse model of hypophosphatasia. J Dent Res J Dent Res 2011, 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
-
25
-
-
0038607621
-
Use of a new adhesive film for the preparation of multi-purpose fresh-frozen sections from hard tissues, whole-animals, insects and plants
-
Kawamoto T. Use of a new adhesive film for the preparation of multi-purpose fresh-frozen sections from hard tissues, whole-animals, insects and plants. Arch Histol Cytol 2003, 66:123-143.
-
(2003)
Arch Histol Cytol
, vol.66
, pp. 123-143
-
-
Kawamoto, T.1
-
26
-
-
77954756294
-
Guidelines for assessment of bone microstructure in rodents using micro-computed tomography
-
Bouxsein M.L., Boyd S.K., Christiansen B.A., Guldberg R.E., Jepsen K.J., Muller R. Guidelines for assessment of bone microstructure in rodents using micro-computed tomography. J Bone Miner Res 2010, 25:1468-1486.
-
(2010)
J Bone Miner Res
, vol.25
, pp. 1468-1486
-
-
Bouxsein, M.L.1
Boyd, S.K.2
Christiansen, B.A.3
Guldberg, R.E.4
Jepsen, K.J.5
Muller, R.6
-
27
-
-
0033495036
-
Differential mechanisms of inorganic pyrophosphate production by plasma cell membrane glycoprotein-1 and B10 in chondrocytes
-
Johnson K., Vaingankar S., Chen Y., Moffa A., Goldring M., Sano K., Jin-Hua P., Sali A., Goding J., Terkeltaub R. Differential mechanisms of inorganic pyrophosphate production by plasma cell membrane glycoprotein-1 and B10 in chondrocytes. Arthritis Rheum 1999, 42:1986-1997.
-
(1999)
Arthritis Rheum
, vol.42
, pp. 1986-1997
-
-
Johnson, K.1
Vaingankar, S.2
Chen, Y.3
Moffa, A.4
Goldring, M.5
Sano, K.6
Jin-Hua, P.7
Sali, A.8
Goding, J.9
Terkeltaub, R.10
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