-
1
-
-
0000034593
-
Hypophosphatasia: A new developmental anomaly
-
Rathbun JC., Hypophosphatasia: a new developmental anomaly. Am J Dis Child. 1948; 75: 822-831.
-
(1948)
Am J Dis Child.
, vol.75
, pp. 822-831
-
-
Rathbun, J.C.1
-
2
-
-
0027930471
-
Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization
-
Whyte MP., Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev. 1994; 15: 439-461.
-
(1994)
Endocr Rev.
, vol.15
, pp. 439-461
-
-
Whyte, M.P.1
-
3
-
-
0001594259
-
Hypophosphataia
-
In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., Childs B., Kinzler K.W., eds. 8th ed, Vol. New York: McGraw-Hill,.
-
Whyte MP., Hypophosphataia. In:, Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, eds. The Metabolic and Molecular Bases of Inherited Deseases 8th ed, Vol IV. New York: McGraw-Hill, 5319-5329. 2002.
-
(2002)
The Metabolic and Molecular Bases of Inherited Deseases
, vol.4
, pp. 5319-5329
-
-
Whyte, M.P.1
-
5
-
-
0023131116
-
Hydrophobic interactions of brush border alkaline phosphatases: The role of phosphatidyl inositol
-
Seetharam B, Tiruppathi C, Alpers DH., Hydrophobic interactions of brush border alkaline phosphatases: the role of phosphatidyl inositol. Arch Biochem Biophys. 1987; 253: 189-198.
-
(1987)
Arch Biochem Biophys.
, vol.253
, pp. 189-198
-
-
Seetharam, B.1
Tiruppathi, C.2
Alpers, D.H.3
-
7
-
-
49749205640
-
Excretion of Inorganic Pyrophosphate in Hypophosphatasia
-
Russell RG., Excretion of Inorganic Pyrophosphate in Hypophosphatasia. Lancet. 1965; 2: 461-464.
-
(1965)
Lancet.
, vol.2
, pp. 461-464
-
-
Russell, R.G.1
-
8
-
-
0015057271
-
Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone
-
Russell RG, Bisaz S, Donath A, Morgan DB, Fleisch H., Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone. J Clin Invest. 1971; 50: 961-969.
-
(1971)
J Clin Invest.
, vol.50
, pp. 961-969
-
-
Russell, R.G.1
Bisaz, S.2
Donath, A.3
Morgan, D.B.4
Fleisch, H.5
-
9
-
-
0021811803
-
Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism
-
Whyte MP, Mahuren JD, Vrabel LA, Coburn SP., Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. J Clin Invest. 1985; 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
-
10
-
-
0023897043
-
Perinatal hypophosphatasia: Tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase
-
Whyte MP, Mahuren JD, Fedde KN, Cole FS, McCabe ER, Coburn SP., Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase. J Clin Invest. 1988; 81: 1234-1239.
-
(1988)
J Clin Invest.
, vol.81
, pp. 1234-1239
-
-
Whyte, M.P.1
Mahuren, J.D.2
Fedde, K.N.3
Cole, F.S.4
McCabe, E.R.5
Coburn, S.P.6
-
11
-
-
0007387198
-
The excretion of phosphoethanolamine and hypophosphatasia
-
McCance RA, Camb MD, et al. The excretion of phosphoethanolamine and hypophosphatasia. Lancet. 1955; 268: 131.
-
(1955)
Lancet.
, vol.268
, pp. 131
-
-
McCance, R.A.1
Camb, M.D.2
-
12
-
-
0013916391
-
Effect of pyrophosphate on dissolution of hydroxyapatite and its possible importance in calcium homeostasis
-
Fleisch H, Maerki J, Russell RG., Effect of pyrophosphate on dissolution of hydroxyapatite and its possible importance in calcium homeostasis. Proc Soc Exp Biol Med. 1966; 122: 317-320.
-
(1966)
Proc Soc Exp Biol Med.
, vol.122
, pp. 317-320
-
-
Fleisch, H.1
Maerki, J.2
Russell, R.G.3
-
13
-
-
0019965925
-
Infantile hypophosphatasia: Enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease
-
Whyte MP, Valdes R Jr, Ryan LM, McAlister WH., 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, Jr.R.2
Ryan, L.M.3
McAlister, W.H.4
-
14
-
-
0021719343
-
Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: Results in three additional patients
-
Whyte MP, McAlister WH, Patton LS, et al. 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
-
16
-
-
0024810414
-
Biochemical and morphological effects of human hepatic alkaline phosphatase in a neonate with hypophosphatasia
-
Weninger M, Stinson RA, Plenk H Jr, Bock 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, Jr.H.3
Bock, P.4
Pollak, A.5
-
17
-
-
0028914274
-
Alkaline phosphatase: Placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy
-
Whyte MP, Landt M, Ryan LM, et al. Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy. J Clin Invest. 1995; 95: 1440-1445.
-
(1995)
J Clin Invest.
, vol.95
, pp. 1440-1445
-
-
Whyte, M.P.1
Landt, M.2
Ryan, L.M.3
-
18
-
-
0041805439
-
Marrow cell transplantation for infantile hypophosphatasia
-
Whyte MP, Kurtzberg J, McAlister WH, et al. Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res. 2003; 18: 624-636.
-
(2003)
J Bone Miner Res.
, vol.18
, pp. 624-636
-
-
Whyte, M.P.1
Kurtzberg, J.2
McAlister, W.H.3
-
19
-
-
34547743240
-
Infantile hypophosphatasia: Transplantation therapy trial using bone fragments and cultured osteoblasts
-
Cahill RA, Wenkert D, Perlman SA, et al. Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts. J Clin Endocrinol Metab. 2007; 92: 2923-2930.
-
(2007)
J Clin Endocrinol Metab.
, vol.92
, pp. 2923-2930
-
-
Cahill, R.A.1
Wenkert, D.2
Perlman, S.A.3
-
20
-
-
65549127189
-
New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia
-
Tadokoro M, Kanai R, Taketani T, Uchio Y, Yamaguchi S, Ohgushi H., New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia. J Pediatr. 2009; 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
-
21
-
-
0029115393
-
Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6
-
Waymire KG, Mahuren JD, Jaje JM, Guilarte TR, Coburn SP, MacGregor GR., 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
-
22
-
-
1842409589
-
Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia
-
Narisawa S, Frohlander N, Millán JL., 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
Frohlander, N.2
Millán, J.L.3
-
23
-
-
0033386205
-
Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia
-
Fedde KN, Blair L, Silverstein J, et al. Alkaline phosphatase knock-out 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
-
24
-
-
0037047051
-
Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization
-
Hessle L, Johnson KA, Anderson HC, et al. 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
-
25
-
-
44449145465
-
Enzyme replacement therapy for murine hypophosphatasia
-
Millán JL, Narisawa S, Lemire I, et al. 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
-
26
-
-
33745497185
-
Enhancement of drug delivery to bone: Characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide
-
Nishioka T, Tomatsu S, Gutierrez MA, et al. Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide. Mol Genet Metab. 2006; 88: 244-255.
-
(2006)
Mol Genet Metab.
, vol.88
, pp. 244-255
-
-
Nishioka, T.1
Tomatsu, S.2
Gutierrez, M.A.3
-
27
-
-
58149196258
-
Selective drug delivery to bone using acidic oligopeptides
-
Ishizaki J, Waki Y, Takahashi-Nishioka T, Yokogawa K, Miyamoto K., Selective drug delivery to bone using acidic oligopeptides. J Bone Miner Metab. 2009; 27: 1-8.
-
(2009)
J Bone Miner Metab.
, vol.27
, pp. 1-8
-
-
Ishizaki, J.1
Waki, Y.2
Takahashi-Nishioka, T.3
Yokogawa, K.4
Miyamoto, K.5
-
28
-
-
78650957915
-
Interim results of adults and infants with hypophosphatasia treated with bone-targeted human recombinant alkaline phosphatase ENB-0040
-
Greenberg CR, Mhanni A, Catte D, et al. Interim results of adults and infants with hypophosphatasia treated with bone-targeted human recombinant alkaline phosphatase ENB-0040. Mol Genet Metab. 2009; 98: 7.
-
(2009)
Mol Genet Metab.
, vol.98
, pp. 7
-
-
Greenberg, C.R.1
Mhanni, A.2
Catte, D.3
-
29
-
-
53149134698
-
Molecular effects of the tissue-nonspecific alkaline phosphatase gene polymorphism (787T > C) associated with bone mineral density
-
Sogabe N, Oda K, Nakamura H, et al. Molecular effects of the tissue-nonspecific alkaline phosphatase gene polymorphism (787T > C) associated with bone mineral density. Biomed Res. 2008; 29: 213-219.
-
(2008)
Biomed Res.
, vol.29
, pp. 213-219
-
-
Sogabe, N.1
Oda, K.2
Nakamura, H.3
-
30
-
-
63949087408
-
Optimized lentiviral vector design improves titer and transgene expression of vectors containing the chicken beta-globin locus HS4 insulator element
-
Hanawa H, Yamamoto M, Zhao H, Shimada T, Persons DA., Optimized lentiviral vector design improves titer and transgene expression of vectors containing the chicken beta-globin locus HS4 insulator element. Mol Ther. 2009; 17: 667-674.
-
(2009)
Mol Ther.
, vol.17
, pp. 667-674
-
-
Hanawa, H.1
Yamamoto, M.2
Zhao, H.3
Shimada, T.4
Persons, D.A.5
-
31
-
-
33645888418
-
Downstream processing of oncoretroviral and lentiviral gene therapy vectors
-
Segura MM, Kamen A, Garnier A., Downstream processing of oncoretroviral and lentiviral gene therapy vectors. Biotechnol Adv. 2006; 24: 321-337.
-
(2006)
Biotechnol Adv.
, vol.24
, pp. 321-337
-
-
Segura, M.M.1
Kamen, A.2
Garnier, A.3
-
32
-
-
61849135619
-
Simplified production and concentration of HIV-1-based lentiviral vectors using HYPERFlask vessels and anion exchange membrane chromatography
-
Kutner RH, Puthli S, Marino MP, Reiser J., Simplified production and concentration of HIV-1-based lentiviral vectors using HYPERFlask vessels and anion exchange membrane chromatography. BMC Biotechnol. 2009; 9: 10.
-
(2009)
BMC Biotechnol.
, vol.9
, pp. 10
-
-
Kutner, R.H.1
Puthli, S.2
Marino, M.P.3
Reiser, J.4
-
33
-
-
0036713630
-
Titering lentiviral vectors: Comparison of DNA, RNA and marker expression methods
-
Sastry L, Johnson T, Hobson MJ, Smucker B, Cornetta K., Titering lentiviral vectors: comparison of DNA, RNA and marker expression methods. Gene Ther. 2002; 9: 1155-1162.
-
(2002)
Gene Ther.
, vol.9
, pp. 1155-1162
-
-
Sastry, L.1
Johnson, T.2
Hobson, M.J.3
Smucker, B.4
Cornetta, K.5
-
34
-
-
4944234406
-
Extended beta-globin locus control region elements promote consistent therapeutic expression of a gamma-globin lentiviral vector in murine beta-thalassemia
-
Hanawa H, Hargrove PW, Kepes S, Srivastava DK, Nienhuis AW, Persons DA., Extended beta-globin locus control region elements promote consistent therapeutic expression of a gamma-globin lentiviral vector in murine beta-thalassemia. Blood. 2004; 104: 2281-2290.
-
(2004)
Blood.
, vol.104
, pp. 2281-2290
-
-
Hanawa, H.1
Hargrove, P.W.2
Kepes, S.3
Srivastava, D.K.4
Nienhuis, A.W.5
Persons, D.A.6
-
35
-
-
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 JL., 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
-
36
-
-
0024268444
-
Detection of minor immunological differences among human "universal-type" alkaline phosphatases
-
Goseki M, Oida S, Sasaki S., Detection of minor immunological differences among human "universal-type" alkaline phosphatases. J Cell Biochem. 1988; 38: 155-163.
-
(1988)
J Cell Biochem.
, vol.38
, pp. 155-163
-
-
Goseki, M.1
Oida, S.2
Sasaki, S.3
-
37
-
-
0030980032
-
Immunolocalization of tissue non-specific alkaline phosphatase in mice
-
Hoshi K, Amizuka N, Oda K, Ikehara Y, Ozawa H., Immunolocalization of tissue non-specific alkaline phosphatase in mice. Histochem Cell Biol. 1997; 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
-
38
-
-
0037869521
-
Bone formation following transplantation of genetically modified primary bone marrow stromal cells
-
Sugiyama O, Orimo H, Suzuki S, Yamashita K, Ito H, Shimada T., Bone formation following transplantation of genetically modified primary bone marrow stromal cells. J Orthop Res. 2003; 21: 630-637.
-
(2003)
J Orthop Res.
, vol.21
, pp. 630-637
-
-
Sugiyama, O.1
Orimo, H.2
Suzuki, S.3
Yamashita, K.4
Ito, H.5
Shimada, T.6
-
39
-
-
18244392685
-
Unique coexpression in osteoblasts of broadly expressed genes accounts for the spatial restriction of ECM mineralization to bone
-
Murshed M, Harmey D, Millán JL, McKee MD, Karsenty G., Unique coexpression in osteoblasts of broadly expressed genes accounts for the spatial 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
-
40
-
-
33646887376
-
Genotoxicity of retroviral integration in hematopoietic cells
-
Nienhuis AW, Dunbar CE, Sorrentino BP., Genotoxicity of retroviral integration in hematopoietic cells. Mol Ther. 2006; 13: 1031-1049.
-
(2006)
Mol Ther.
, vol.13
, pp. 1031-1049
-
-
Nienhuis, A.W.1
Dunbar, C.E.2
Sorrentino, B.P.3
-
41
-
-
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
-
Baumgartner-Sigl S, Haberlandt E, Mumm S, et al. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. Bone. 2007; 40: 1655-1661.
-
(2007)
Bone.
, vol.40
, pp. 1655-1661
-
-
Baumgartner-Sigl, S.1
Haberlandt, E.2
Mumm, S.3
|