Hypophosphatasia: Nature's Window on Alkaline Phosphatase Function in Humans

Principles of Bone Biology: Volume 1-2, Third Edition

Volumn , Issue , 2008, Pages 1573-1598

  Whyte, Michael P ^a,b  

^a SHRINERS HOSPITAL FOR CHILDREN   (United States)

^b BARNES JEWISH HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882522447     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-373884-4.00080-X     Document Type: Chapter

References (174)

1. A. Albeggiani and F. Cataldo (1982) Infantile hypophosphatasia diagnosed at 4 months and surviving 2 years. Helv. Paediatr. Acta 37 49-58.
2. S.Y. Ali (1986) Cell Mediated Calcification and Matrix Vesicles. Amsterdam: Elsevier Science
3. D.H. Alpers, R. Eliakim and K. DeSchruyver-Kecskemeti (1990) Secretion of hepatic and intestinal alkaline phosphatases: Similarities and differences. Clin. Chim. Acta 186 211-223.
4. B.B. Anderson, H. O'Brien, G.E. Griffin and D.L. Mollin (1980) Hydrolysis of pyridoxal 5′-phosphate in plasma in conditions with raised alkaline phosphate. Gut 21 192-194.
5. H.C. Anderson (1969) Vesicles associated with calcification in the matrix of epiphyseal cartilage. J. Cell. Biol. 41 59-72.
6. Anderson, H. C. (1992). Conference introduction and summary (Fifth International Conference on Cell-Mediated Calcification and Matrix Vesicles). Bone Miner. 17, 107.
7. H.C. Anderson, H.H.T. Hsu, D.C. Morris, K.N. Fedde and M.P. Whyte (1997) Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals. Am. J. Pathol. 151 1555-1561.
8. H.C. Anderson, J.B. Sipe, L. Hessle, R. Dhanyamraju, E. Atti, N.P. Camacho and J.L. Millán (2004) Impaired calcification around matrix vesicles of growth plate and bone in alkaline phosphatase-deficient mice. Am. J. Pathol. 164 841-847.
9. J.P. Barcia, C.F. Strife and C.B. Langman (1997) Infantile hypophosphatasia: Treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization. J. Pediatr. 130 825.
10. S.B. Baumgartner-Sigl, E. Haberlandt, S. Mumm, C. Sergi, L. Ryan, K.L. Ericson, M.P. Whyte and W. Högler (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.
11. S.J. Birge and H.R. Gilbert (1974) Identification of an intestinal sodium and calcium-dependent phosphate stimulated by parathyroid hormone. J. Clin. Invest. 54 710-717.
12. D.J. Birkett, J. Dowe, F.C. Neale and S. Posen (1966) Serum alkaline phosphatase in pregnancy: An immunological study. Br. Med. J. 5497 1210-1212.
13. I. Brun-Heath, A. Taillandier, J.L. Serre and E. Nirbet (2005) Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. Mol. Genet. Metab. 84 273-277.
14. R.A. Cahill, D. Wenkert, S.A. Perlman, A. Steele, S.P. Coburn, W.H. McAlister, S. Mumm and M.P. Whyte (2007) Infantile hypophosphatasia: Trial of transplantation therapy using bone fragments and cultured osteoblasts. J. Clin. Endocrinol. Metab. 92 2923-2930.
15. G. Cai, T. Michigami, T. Yamamoto, N. Yasui, K. Satomura, M. Yamagata, M. Shima, S. Nakajima, S. Mushiake, S. Okada and K. Ozono (1998) Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras. J. Clin. Endocrinol. Metab. 83 3936-3942.
16. A.M. Caswell, M.P. Whyte and R.G. Russell (1991) Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: Clinical and laboratory aspects. CRC Crit. Rev. Clin. Lab. Sci. 28 175-232.
17. A.M. Caswell, M.P. Whyte and R.G. Russell (1986) Normal activity of nucleoside triphosphate pyrophosphatase in alkaline phosphatase-deficient fibroblasts from patients with infantile hypophosphatasia. J. Clin. Endocrinol. Metab. 63 1237-1241.
18. A. Chaidaroglou and E.R. Kantrowitz (1993) The Ala-161 β Thr substitution in Escherichia coli alkaline phosphatase does not result in loss of enzymatic activity although the homologous mutation in humans causes hypophosphatasia. Biochem. Biophys. Res. Commun. 193 1104-1109.
19. B.N. Chodirker, S.P. Coburn, L.E. Seargeant, M.P. Whyte and C.R. Greenberg (1990) Increased plasma pyridoxal-5′-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia. J. Inherit. Metab. Dis. 13 891-896.
20. S.P. Coburn and M.P. Whyte (1988) Role of phosphatases in the regulation of vitamin B6 metabolism in hypophosphatasia and other disorders. J.E. Leklem, R.D. Reynolds (Eds) Clinical and Physiological Applications of Vitamin B6 New York: A. R. Liss 65-93.
21. S.P. Coburn, J.D. Mahuren, M. Jain, Y. Zubovic and J. Wortsman (1998) Alkaline phosphatase (EC 3.1.3.1) in serum is inhibited by physiological concentrations of inorganic phosphate. J. Clin. Endocrinol. Metab. 83 3951-3957.
22. J.D. Coe, W.A. Murphy and M.P. Whyte (1986) Management of femoral fractures and pseudofractures in adult hypophosphatasia. J. Bone Joint Surg. 68-A 981-990.
23. B. DeBernard, P. Bianco, E. Bonucci, M. Costantini, G.C. Lunazzi, P. Martinuzzi, C. Modricky, L. Moro, E. Panfili, P. Pollesello, N. Stagni and F. Vittor (1986) Biochemical and immunohistochemical evidence that in cartilage an alkaline phosphatase is a Ca2+-binding glycoprotein. J. Cell. Biol. 103 1615-1623.
24. D. Dolphin, R. Poulson and O. Avramovic (1986) Vitamin B6 Pyridoxal Phosphate: Clinical, Biochemical and Medical Aspects: Part B. New York: Wiley
25. N.G. El-Labban, K.W. Lee and D. Rule (1991) Permanent teeth in hypophosphatasia: Light and electron microscopic study. J. Oral Pathol. Med. 20 352-360.
26. M.D. Fallon, M.P. Whyte and S.L. Teitelbaum (1980) Stereospecific inhibition of alkaline phosphatase by L-tetramisole prevents in vitro cartilage calcification. Lab. Invest. 43 489-494.
27. M.D. Fallon, S.L. Teitelbaum, R.S. Weinstein, S. Goldfischer, D.M. Brown and M.P. Whyte (1984) Hypophosphatasia: Clinicopathologic comparison of the infantile, childhood, and adult forms. Medicine 63 12-24.
28. M.D. Fallon, M.P. Whyte, M. Weiss and H. Harris (1989) Molecular biology of hypophosphatasia: A point mutation or small deletion in the bone/liver/kidney alkaline phosphatase gene results in an intact but functionally inactive enzyme. J. Bone Miner. Res. 4 S-s304. [Abstract]
29. J.R. Farley (1991) Phosphate regulates the stability of skeletal alkaline phosphatase activity in human osteosarcoma (SaOS-2) cells without equivalent effects on the level of skeletal alkaline phosphatase immuno-reactive protein. Calcif. Tissue Int. 57 371-378.
30. K.N. Fedde, C.C. Lane and M.P. Whyte (1988) Alkaline phosphatase in an ectoenzyme that acts on micromolar concentrations of natural substrates at physiologic pH in human osteosarcoma (SAOS-2) cells. Arch. Biochem. Biophys. 264 400-409.
31. K.N. Fedde, C.C. Lane and M.P. Whyte (1990) Alkaline phosphatase: (tissue nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal 5′-phosphate ectophosphatase: Normal and hypophosphatasia fibroblast study. Am. J. Hum. Genet. 47 767-775.
32. K.N. Fedde, M.P. Michel and M.P. Whyte (1993) Evidence against a role for alkaline phosphatase in the dephosphorylation of plasma membrane proteins: Hypophosphatasia fibroblast study. J. Cell. Biochem. 53 43-50.
33. K.N. Fedde, M. Michell, P.S. Henthorn and M.P. Whyte (1996) Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia. J. Clin. Endocrinol. Metab. 81 2587-2594.
34. K.N. Fedde, L. Blair, J. Silverstein, S.P. Coburn, L.M. Ryan, R.S. Weinstein, K. Waymire, S. Narisawa, J.L. Millan, G.R. MacGregor and M.P. Whyte (1999) Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia. J. Bone Miner. Res. 14 2015-2026.
35. D. Fraser (1957) Hypophosphatasia. Am. J. Med. 22 730-746.
36. D. Fraser and J.C. Laidlaw (1956) Treatment of hypophosphatasia with cortisone, preliminary communication. Lancet 1 553.
37. D. Fraser and E.R. Yendt (1955) Metabolic abnormalities in hypophosphatasia. Am. J. Dis. Child. 90 552-554.
38. D. Fraser, E.R. Yendt and F.H.E. Christie (1955) Metabolic abnormalities in hypophosphatasia. Lancet 1 286.
39. M. Fukushi, N. Amizuka, K. Hoshi, H. Ozawa, H. Kumagai, S. Omura, Y. Misumi, Y. Ikehara and K. Oda (1998) Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317-Asp substitution associated with lethal hypophosphatasia. Biochem. Biophys. Res. Commun. 246 613-618.
40. R. Gorodischer, R.G. Davidson, L.L. Mosovich and S.J. Yaffe (1976) Hypophosphatasia: A developmental anomaly of alkaline phosphatase? Pediatr. Res. 10 650-656.
41. M. Goseki-Sone, A. Yamada, K. Asahi, A. Hirota, I. Ezawa and T. Iimura (1999) Phosphate depletion enhances tissue-nonspecific alkaline phosphatase gene expression in a cultured mouse marrow stromal cell line ST2. Biochem. Biophys. Res. Commun. 265 24-28.
42. C.R. Greenberg, C.L.D. Taylor, J.C. Haworth, L.E. Seargeant, S. Phillips, B. Triggs-Raine and B.N. Chodirker (1993) A homoallelic Gly317 β Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites. Genomics 17 215-217.
43. I.H. Gron (1978) Mammalian O-phosphorylethanolamine phospholyase activity and its inhibition. Scand. J. Clin. Lab. Invest. 38 107-112.
44. H. Harris (1980) The Principles of Human Biochemical Genetics. 3rd Ed. Amsterdam: Elsevier/North Holland
45. H. Harris (1990) The human alkaline phosphatases: What we know and what we don't know. Clin. Chim. Acta 186 133-150.
46. J.K. Heinonen (2001) Biological Role of Inorganic Pyrophosphate. Norwell, MA: Kluwer Academic Publishers
47. P.S. Henthorn and M.P. Whyte (1992) Missense mutations of the tissue nonspecific alkaline phosphatase gene in hypophosphatasia. Clin. Chem. 38 2501-2505.
48. P.S. Henthorn and M.P. Whyte (1995) Infantile hypophosphatasia: Successful prenatal assessment by testing for tissue-nonspecific alkaline phosphatase gene mutations. Prenatal. Diag. 15 1001-1006.
49. P.S. Henthorn, M. Raducha, K.N. Fedde, M.A. Lafferty and M.P. Whyte (1992) Different missense mutations at the tissue-non-specific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc. Natl. Acad. Sci. USA 89 9924-9928.
50. L. Hessle, K.A. Johnson, H.C. Anderson, S. Narisawa, A. Sali, J.W. Goding, R. Terkeltaub and J.L. Millan (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.
51. D. Hotton, N. Mauro, F. Lézot, N. Forest and A. Berdal (1999) Differential expression and activity of tissue-nonspecific alkaline phosphatase (TNAP) in rat odontogenic cells in vivo. J. Histochem. Cytochem. 47 1541-1552.
52. T.A. Hough, M. Polewski, K. Johnson, M. Cheeseman, P.M. Nolan, L. Vizor, S. Rastan, A. Boyde, K. Pritzker, A.J. Hunter, E.M. Fisher, R. Terkeltaub and S.D. Brown (2007) Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2. J. Bone Miner. Res. 22 1397-1407.
53. M.F. Hoylaerts and J.L. Millan (1991) Site-directed mutagenesis and epitope mapped monoclonal antibodies define a catalytically important conformational difference between human placental and germ cell alkaline phosphatase. Eur. J. Biochem. 202 605-616.
54. S.J. Iqbal, T. Davies, S. Holland, T. Manning and P. Whittaker (2000) Alkaline phosphatase isoenzymes and clinical features in hypophosphatasia. Ann. Clin. Biochem. 37 775-780.
55. Ish-Shalom, S., Budden, F., Fraser, D., Harrison, J., Josse, R. G., Kirsh, J., Kooh, S. W., Patt, N., Reilly, B. J., Strauss, A., and Tam, C. (1986). A follow-up of hypophosphatasia from infancy to adulthood. Presented at the annual meeting of the Pediatric Working Group, American Society for Bone and Mineral Research, 8th Annual Scientific Meeting, Anaheim, CA, June 21–24, 1986. [Abstract].
56. K.A. Johnson, L. Hessle, S. Vaingankar, C. Wennberg, S. Mauro, S. Narisawa, J.W. Goding, K. Sano, J.L. Millan and R. Terkeltaub (2000) Osteoblast tissue-nonspecific alkaline phosphatase antagonizes and regulates PC-1. Am. J. Physiol. 279 R1365-rR1377.
57. D. Juan and P.W. Lambert (1981) Vitamin D. Metabolism and phosphorus absorption studies in a case of coexistent vitamin D resistant rickets and hypophosphatasia. D.V. Cohn, R.V. Talmage, J.L. Matthews (Eds) Hormonal Control of Calcium Metabolism Amsterdam: Excerpta Medica International Congress Series 511
58. H.M. Khandwala, S. Mumm and M.P. Whyte (2006) Low serum alkaline phosphatase activity with pathologic fracture: Case report and brief review of adult hypophosphatasia. Endocr. Pract. 12 676-680.
59. H.I. Khouja, A. Bevington, G.J. Kemp and R.G. Russell (1990) Calcium and orthophosphate deposits in vitro do not imply osteoblast-medicated mineralization: Mineralization by beta-glycerophosphate in the absence of osteoblasts. Bone 11 385-391.
60. M. Kiledjian and T. Kadesch (1990) Analysis of the human liver/bone/kidney alkaline phosphatase promoter in vivo and in vitro. Nucleic Acids Res. 18 957-961.
61. E.E. Kim and H.W. Wyckoff (1991) Reaction mechanism of alkaline phosphatase based on crystal structures. Two metal ion catalysis. J. Mol. Biol. 218 449-464.
62. M.J. Langman, E. Leuthold, E.B. Robson, J. Harris, J.E. Luffman and H. Harris (1966) Influence of diet on the “intestinal” component of serum alkaline phosphatase in people of different ABO blood groups and secretor status. Nature 212 41-43.
63. M.N. Lassere and J.G. Jones (1990) Recurrent calcific periarthritis, erosive osteoarthritis and hypophosphatasia: A family study. J. Rheumatol. 17 1244-1248.
64. K.H. Lau, J.R. Farley and D.J. Baylink (1985) Phosphotyrosyl-specific protein phosphatase activity of a bovine skeletal acid phosphatase isoenzyme: Comparison with the phosphotyrosyl protein phosphatase activity of skeletal alkaline phosphatase. J. Biol. Chem. 260 4653-4660.
65. H.M. Le Due, T. Stigbrand, M.J. Taussig, A. Ménez and E.A. Stura (2000) Crystal structure of alkaline phosphatase from human placenta at 1.8 Å resolution. J. Biol. Chem. 275(2), 9158-9165.
66. X. Lepe, B.R. Rothwell, S. Banich and R.C. Page (1997) Absence of adult dental anomalies in familial hypophosphatasia. J. Periodont. Res. 32 375-380.
67. A.A. Licata, N. Radfor, F.C. Bartter and E. Bou (1978) The urinary excretion of phosphoethanolamine in diseases other than hypophosphatasia. Am. J. Med. 64 133-138.
68. M.G. Low and A.R. Saltiel (1988) Structural and functional roles of glycosyl-phosphatidylinositol in membranes. Science 239 268-275.
69. M.G. Low and D.B. Zilversmit (1980) Role of phosphatidylinositol in attachment of alkaline phosphatase to membranes. Biochemistry 19 3913-3918.
70. T. Lundgren, O. Westphal, P. Bolme, T. Modeer and J.G. Noren (1991) Retrospective study of children with hypophosphatasia with reference to dental changes. Scand. J. Dent. Res. 99 357-364.
71. J.D. Macfarlane, J.H. Souverijn and F.C. Breedveld (1992) Clinical significance of a low serum alkaline phosphatase. Neth. J. Med. 40 9-14.
72. R.I. Macpherson, M. Kroeker and C.S. Houston (1972) Hypophosphatasia. Can. Assoc. Radiol. J. 23 16-26.
73. R.J. Majeska and R.E. Wuthier (1975) Studies on matrix vesicles isolated from chick epiphyseal cartilage. Association of pyrophosphatase and ATPase activities with alkaline phosphatase. Biochim. Biophys. Acta 391 51-60.
74. R. Makiya, L.E. Thornell and T. Stigbrand (1992) Placental alkaline phosphatase, a GPI-anchored protein, is clustered in clathrin-coated vesicles. Biochem. Biophys. Res. Commun. 183 803-808.
75. R.A. McCance, A.B. Morrison and C.E. Dent (1955) The excretion of phosphoethanolamine and hypophosphatasia. Lancet 1 131.
76. R.B. McComb, G.N. Bowers Jr. and S. Posen (1979) Alkaline Phosphatase. New York: Plenum
77. J.L. Millan (1988) Oncodevelopmental expression and structure of alkaline phosphatase genes. Anticancer Res. 8 995-1004.
78. J.L. Millan (2006) Mammalian alkaline phosphatases: From Biology to Applications in Medicine and Biotechnology. Weinheim, Germany: Wiley-VCH
79. J.L. Millan, M.P. Whyte, L.V. Avioli and W.H. Fishman (1980) Hypophosphatasia (adult form): Quantitation of serum alkaline phosphatase isoenzyme activity in a large kindred. Clin. Chem. 26 840-845.
80. J.L. Millan, S. Narisawa, I. Lemire, T.P. Loisel, G. Boileau, P. Leonard, S. Gramatikova, R. Terkeltaub, N.P. Camacho, M. McKee, P. Crine and M.P. Whyte (2008) Enzyme replacement therapy for murine hypophosphatasia. J. Bone Miner. Res. 23 777-787.
81. C.A. Moore, C.J.R. Curry, P.S. Henthorn, J.A. Smith, J.C. Smith, P. O'Lague, S.P. Coburn, D.D. Weaver and M.P. Whyte (1999) Mild autosomal dominant hypophosphatasia: In utero presentation in two families. Am. J. Med. Genet. 86 410-415.
82. Mornet, E. (2007). Tissue nonspecific alkaline phosphatase gene mutations database Yvelines (France): SESEP Laboratory at the University of Versailles-Saint Quentin. c2004 (updated 2007 July 4; assessed 2007 December 18). Available at: http://www.sesep.uvsq.fr/Database.html.
83. E. Mornet, A. Taillandier, S. Peyramaure, F. Kaper, F. Muller, R. Brenner, P. Bussiere, P. Freisinger, J. Godard, M. Le Merrer, J.F. Oury, H. Plauchu, R. Puddy, J.M. Rival, A. Superti-Furga, R.L. Touraine, J.L. Serre and B. Simon-Bouy (1998) Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Eur. J. Hum. Genet. 6 308-845.
84. D.W. Moss (1992) Perspectives in alkaline phosphatase research. Clin. Chem. 28 2486-2492.
85. D.W. Moss and K.B. Whitaker (1985) Modification of alkaline phosphatases by treatment with glycosidases. Enzyme 34 212-216.
86. D.W. Moss, R.H. Eaton, J.K. Smith and L.G. Whitby (1967) Association of inorganic pyrophosphatase activity with human alkaline phosphatase preparations. Biochem. J. 102 53-57.
87. H.D. Mueller, R.A. Stinson, F. Mohyuddin and J.K. Milne (1983) Isoenzymes of alkaline phosphatase in infantile hypophosphatasia. J. Lab. Clin. Med. 102 24-30.
88. R.A. Mulivor, D. Boccelli and H. Harris (1985) Quantitative analysis of alkaline phosphatases in serum and amniotic fluid: Comparison of biochemical and immunologic assays. J. Lab. Clin. Med. 105 342-348.
89. K. Muller, V. Schellenberger, P. Borneleit and A. Treide (1991) The alkaline phosphatase from bone: Transphosphorylating activity and kinetic mechanism. Biochim. Biophys. Acta 1076 308-313.
90. S.R. Mumm, J. Jones, P. Finnegan and M.P. Whyte (2001) Hypophosphatasia: molecular diagnosis of Rathbun's original case. J. Bone Miner. Res. 16 1724-1727.
91. S.R. Mumm, J. Jones, P. Finnegan, P.S. Henthorn, M.N. Podgornik and M.P. Whyte (2002) Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia. Mol. Genet. Metab. 75 143-153.
92. S. Mumm, D. Wenkert, X. Zhang, M. Geimer, J. Zerega and M.P. Whyte (2006) Hypophosphatasia: The c.1133A>t, p.D378V transversion is the most common American TNSALP mutation. J. Bone Miner. Res. 21 S115. [Abstract]
93. M. Murshed, D. Harmey, J.L. Millán, M.D. McKee and G. Karsenty (2005) Unique coexpression in osteoblasts of broadly expressed genes accounts for the spatial restriction of ECM mineralization to bone. Genes Dev. 19 1093-1104.
94. S. Narisawa, M.C. Hofmann, C.A. Ziomek and J.L. Millan (1992) Embryonic alkaline phosphatase is expressed at M-phase in the spermatogenic lineage of the mouse. Development 116 159-165.
95. S. Narisawa, N. Fröhlander and J.L. Millán (1997) Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia. Dev. Dyn. 208 432-465.
96. S. Narisawa, C. Wennberg and J.L. Millán (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.
97. W.F. Neuman and M.W. Neuman (1957) Emerging concepts of the structure and metabolic functions of bone. Am. J. Med. 22 123-131.
98. O. Nosjean, I. Koyama, M. Goseki, B. Roux and T. Komoda (1997) Human tissue-nonspecific alkaline phosphatase: Sugar-moiety-induced enzymic and antigenic modulations and genetic aspects. Biochem. J. 321 297-303.
99. J.D. O'Duffy (1970) Hypophosphatasia associated with calcium pyrophosphate dihydrate deposits in cartilage. Arthritis Rheum. 13 381-388.
100. Online Mendelian Inheritance in Man, OMIM (TM). Available at: http://www.ncbi.nlm.nih.gov/sites/entrez. Last accessed on 4 September 2007.
101. A. Ornoy, G.E. Adomian and D.L. Rimoin (1985) Histologic and ultrastructural studies on the mineralization process in hypophosphatasia. Am. J. Med. Genet. 22 743-758.
102. R.M. Pauli, P. Modaff, S.L. Sipes and M.P. Whyte (1999) Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: Bent but not broken. Am. J. Med. Genet. 86 434-438.
103. K. Rasmussen (1968) Phosphorylethanolamine and hypophosphatasia. Dan. Med. Bull. 15(Suppl. II), 1-112.
104. J.C. Rathbun (1948) Hypophosphatasia, a new developmental anomaly. Am. J. Dis. Child. 75 822-831.
105. R. Robison (1923) The possible significance of hexosephosphoric esters in ossification. Biochem. J. 17 286-293.
106. R. Robison (1932) The Significance of Phosphoric Esters in Metabolism. New York: New York University Press
107. R. Robison and K.M. Soames (1924) The possible significance of hexosephosphoric esters in ossification. II. The phosphoric esterase of ossifying cartilage. Biochem. J. 18 740-754.
108. P.M. Royce, A. Blumberg, R.P. Zurbrugg, A. Zimmermann, J.P. Colombo and B. Steinmann (1988) Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia. Eur. J. Pediatr. 147 626-631.
109. R.G.G. Russell (1965) Excretion of inorganic pyrophosphate in hypophosphatasia. Lancet 2 461-464.
110. R.G. Russell, S. Bisaz, A. Donath, D.B. Morgan and H. Fleisch (1971) Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone. J. Clin. Invest. 50 961-969.
111. Ruzicka, T., Werner, A., McAlister, W. H., Zerega, J., Wenkert, D., and Whyte, M. P. Hypophosphatasia: Speech, language, and feeding disorders are prevalent in affected children (in manuscript).
112. C.R. Scriver and D. Cameron (1969) Pseudohypophosphatasia. N. Engl. J. Med. 281 604.
113. B. Seetharam, C. Tiruppathi and D.H. Alpers (1987) Hydrophobic interactions of brush border alkaline phosphatases. The role of phosphatidyl inositol. Arch. Biochem. Biophys. 253 189-198.
114. S.S. Seshia, G. Derbyshire, J.C. Haworth and J. Hoogstraten (1990) Myopathy with hypophosphatasia. Arch. Dis. Child. 65 130-131.
115. H. Shibata, M. Fukushi, A. Igarashi, Y. Misumi, Y. Ikehara, Y. Ohashi and K. Oda (1998) Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-Thr mutation associated with lethal hypophosphatasia. J. Biochem. 123 967-977.
116. M. Shohat, D.L. Rimoin, H.E. Gruber and R.S. Lachman (1991) Perinatal lethal hypophosphatasia: Clinical, radiologic and morphologic findings. Pediatr. Radiol. 21 421-427.
117. M.M. Silver, G.A. Vilos and K.J. Milne (1988) Pulmonary hypoplasia in neonatal hypophosphatasia. Pediatr. Pathol. 8 483-493.
118. V. Simko (1991) Alkaline phosphatases in biology and medicine. Dig. Dis. 9 189-209.
119. E.H. Sobel, L.C. Clark, R.P. Fox and M. Robinow (1953) Rickets, deficiency of “alkaline” phosphatase activity and premature loss of teeth in childhood. Pediatrics 11 309-321.
120. S.A. Sorensen, H. Flodgaard and E. Sorensen (1978) Serum alkaline phosphatase, serum pyrophosphatase, phosphorylethanolamine and inorganic pyrophosphate in plasma and urine. A genetic and clinical study of hypophosphatasia. Monogr. Hum. Genet. 10 66-69.
121. Stevenson, D. A., Carey, J. C., Coburn, S. P., Ericson, K. L., Byrne, J. L. B., Mumm, S., and Whyte, M. P. Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. J. Clin. Endocrinol. Metab. (in press).
122. T. Stigbrand and W.H. Fishman (1984) Human Alkaline Phosphatases. New York: A. R. Liss
123. A. Taillander, A.S. Lia-Bladini, M. Mouchard, B. Robin, F. Muller, B. Simon-Bouy, J.L. Serre, M. Bera-Louville, M. Bondulle, J. Eckhrdt, D. Gaillard, A.G. Myhre, S. Kortge-Jung, L. Larget-Piet, E. Malou, D. Sillence, I.K. Temple, G. Viot and E. Mornet (2001) Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. Hum. Mutat. 18 83-84.
124. T. Takahashi, A. Iwantanti, S. Mizuno, Y. Morishita, H. Nishio, S. Kodama and T. Matsuo (1984) The relationship between phosphoethanolamine level in serum and intractable seizure on hypophosphatasia infantile form. D.V. Cohn, T. Fugita, J.T. Potts, Sr., R.V. Talmage (Eds) Endocrine Control of Bone and Calcium Metabolism Vol. 8-B Amsterdam: Excerpta Medica 93-94.
125. H.G. Terheggen and A. Wischermann (1984) Congenital hypophosphatasia. Monatsschr. Kinderheilk. 132 512-522.
126. P.A. Tsonis, W.S. Argraves and J.L. Millan (1988) A putative functional domain of human placental alkaline phosphatase predicted from sequence comparisons. Biochem. J. 254 623-624.
127. M. Tsutsumi, U.M. Alvarez, M.J. Scott, L.V. Avioli and M.P. Whyte (1986) Phospholipid metabolism in cultured skin fibroblasts from patients with infantile hypophosphatasia. J. Bone Miner. Res. 1 72. [Abstract]
128. S. Unger, E. Mornet, S. Mondlos, S. Blaser and D.E.C. Cole (2002) Severe cleidocranial dysplasia can mimic hypophosphatasia. Eur. J. Pediatr. 161 623-626.
129. T. Van den Bos, G. Handoko, A. Niehof, L.M. Ryan, S.P. Coburn, M.P. Whyte and W. Beertsen (2005) Cementum and dentin in hypophosphatasia. J. Dent. Res. 84 1021-1025.
130. P.W. Van Dongen, B.C. Hamel, J.G. Nijhuis and C.N. de Boer (1990) Prenatal follow-up of hypophosphatasia by ultrasound: Case report. Eur. J. Obstet. Gynecol. Reprod. Biol. 34 283-288.
131. F.J. Vanneuville and L.G. Leroy (1981) Enzymatic diagnosis of congenital lethal hypophosphatasia in tissues, plasma, and diploid skin fibroblasts. J. Inherit. Metab. Dis. 4 129-130.
132. K.G. Waymire, J.D. Mahuren, J.M. Jaje, T.R. Guilarte, S.P. Coburn and G.R. MacGregor (1995) Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. Nat. Genet. 11 45-51.
133. R.S. Weinstein and M.P. Whyte (1981) Fifty year follow-up of hypophosphatasia. Arch. Intern. Med. 141 1720-1721. [Letter]
134. M.J. Weiss, D.E. Cole, K. Ray, M.P. Whyte, M.A. Lafferty, R.A. Mulivor and H. Harris (1988) A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc. Natl. Acad. Sci. USA 85 7666-7669.
135. M.J. Weiss, K. Ray, P.S. Henthorn, B. Lamb, T. Kadesch and H. Harris (1988) Structure of the human liver/bone/kidney alkaline phosphatase gene. J. Biol. Chem. 263 12002-12010.
136. M. Weninger, R.A. Stinson, H. Plenk Jr., P. Bock and A. Pollack (1989) Biochemical and morphological effects of human hepatic alkaline phosphatase in a neonate with hypophosphatasia. Acta Paediatr. Scand. 360(Suppl.), 154-160.
137. D. Wenkert, W.H. McAlister, J.H. Hersh, S. Mumm and M.P. Whyte (2005) Hypophosphatasia: misleading in utero presentation for the childhood and odonto forms. J. Bone Miner. Res. 20(Suppl 1), S418. [Abstract]
138. D. Wenkert, M.N. Podgornik, S.P. Coburn, L.M. Ryan, S. Mumm and M.P. Whyte (2002) Dietary phosphate restriction therapy for hypophosphatasia: Preliminary observations. J. Bone Miner. Res. 17(Suppl 1), S384. [Abstract]
139. C. Wennberg, L. Hessle, P. Lundberg, S. Mauro, S. Narisawa, U.H. Lerner and J.L. Millán (2000) Functional characterization of osteoblasts and osteoclasts from alkaline phosphatase knockout mice. J. Bone Miner. Res. 15 1879-1888.
140. M.P. Whyte (1988) Spur-limbed dwarfism in hypophosphatasia. Dysmorphol. Clin. Genet. 2 126-127. [Letter]
141. M.P. Whyte (1989) Alkaline phosphatase: physiologic role explored in hypophosphatasemia. W.A. Peck (Eds) Bone and Mineral Research Amsterdam: Elsevier Science Publishers BV (Biomedical Division)
142. M.P. Whyte (1994) Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr. Rev. 15 439-461.
143. M.P. Whyte (2000) Hypophosphatasia. M.J. Econs (Eds) The Genetics of Osteoporosis and Metabolic Bone Disease Totowa, NJ: Humana Press 335-356.
144. M.P. Whyte (2001) Hypophosphatasia. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds) The Metabolic and Molecular Bases of Inherited Disease 8th Ed. New York: McGraw-Hill 5313-5329.
145. M.P. Whyte (2002) Rickets and osteomalacia (acquired and heritable forms). J.A.H. Wass, S.M. Shalet (Eds) The Oxford Textbook of Endocrinology and Diabetes New York: Oxford University Press
146. M.P. Whyte and S.D. Rettinger (1987) Hyperphosphatemia due to enhanced renal reclamation of phosphate in hypophosphatasia. J. Bone Miner. Res. 2(Suppl. 1), [Abstract 399]
147. M.P. Whyte and Y. Seino (1982) Circulating vitamin D metabolite levels in hypophosphatasia. J. Clin. Endocrinol. Metab. 55 178-181.
148. M.P. Whyte and L.A. Vrabel (1983) Alkaline phosphatase-deficient hypophosphatasia fibroblasts: Normal accumulation of inorganic phosphate in culture. Clin. Res. 31 856A. [Abstract]
149. M.P. Whyte and L.A. Vrabel (1985) Infantile hypophosphatasia: Genetic complimentation analyses with skin fibroblast heterokaryons suggest a defect(s) at a single gene locus. Clin. Res. 33 332-33A. [Abstract]
150. M.P. Whyte and L.A. Vrabel (1987) Infantile hypophosphatasia fibroblasts proliferate normally in culture: Evidence against a role for alkaline phosphatase (tissue nonspecific isoenzyme) in the regulation of cell growth and differentiation. Calcif. Tissue Int. 40 1-7.
151. M.P. Whyte, W.A. Murphy and M.D. Fallon (1982) Adult hypophosphatasia with chondrocalcinosis and arthropathy, variable penetrance of hypophosphatasemia in a large Oklahoma kindred. Am. J. Med. 72 631-641.
152. M.P. Whyte, R. Valdes Jr., L.M. Ryan and W.H. McAlister (1982) Infantile hypophosphatasia: Enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget's bone disease. J. Pediatr. 101 379-386.
153. M.P. Whyte, L.A. Vrabel and T.D. Schwartz (1983) Alkaline phosphatase deficiency in cultured skin fibroblasts from patients with hypophosphatasia: Comparison of the infantile, childhood, and adult forms. J. Clin. Endocrinol. Metab. 57 831-837.
154. M.P. Whyte, W.H. McAlister, L.S. Patton, H.L. Magill, M.D. Fallon, W.B. Lorentz and H.G. Herrod (1984) Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: Results in three additional patients. J. Pediatr. 105 926-933.
155. M.P. Whyte, J.D. Mahuren, L.A. Vrabel and S.P. Coburn (1985) Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia: Alkaline phosphatase acts in vitamin B6 metabolism. J. Clin. Invest. 76 752-756.
156. M.P. Whyte, H.L. Magill, M.D. Fallon and H.G. Herrod (1986) Infantile hypophosphatasia: Normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase. J. Pediatr. 108 82-88.
157. M.P. Whyte, S.D. Rettinger and L.A. Vrabel (1987) Infantile hypophosphatasia: Enzymatic defect explored with alkaline phosphatase-deficient patient dermal fibroblasts in culture. Calcif. Tissue Int. 40 244-252.
158. M.P. Whyte, J.D. Mahuren, K.N. Fedde, F.S. Cole, E.R. McCabe and S.P. Coburn (1988) 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. 81 1234-1239.
159. M.P. Whyte, D. Habib, S.P. Coburn, F. Tecklenburg, L. Ryan, K.N. Fedde and R.A. Stinson (1992) Failure of hyperphosphatasemia by intravenous infusion of purified placental alkaline phosphatase to correct severe hypophosphatasia: Evidence against a role for circulating ALP in skeletal mineralization. J. Bone Miner. Res. 7(Suppl. 1), S155. [Abstract]
160. M.P. Whyte, M. Landt, L.M. Ryan, R.A. Mulivor, P.S. Henthorn, K.N. Fedde and S.P. Coburn (1995) 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. 95 1440-1445.
161. M.P. Whyte, D.A. Walkenhorst, K.N. Fedde, P.S. Henthorn and C.S. Hill (1996) Hypophosphatasia: Levels of bone alkaline phosphatase isoenzyme immunoreactivity in serum reflect disease severity. J. Clin. Endocrinol. Metab. 81 2142-2148.
162. M.P. Whyte, M.C. Eddy and A. D'Avignon (2000) 31P-Nuclear magnetic resonance spectroscopy (NMRS) in hypophosphatasia: Diagnostic urine profile indicating multiple new natural substrates for bone alkaline phosphatase. J. Bone. Miner. Res. 15(Suppl 1), S483. [Abstract]
163. M.P. Whyte, J. Kurtzberg, W.H. McAlister, S. Mumm, M.N. Podgornik, S.P. Coburn, L.M. Ryan, C.R. Miller, G.S. Gottesman, A.K. Smith, J. Douville, B. Waters-Pick, R.D. Armstrong and P.L. Martin (2003) Marrow cell transplantation for infantile hypophosphatasia. J. Bone. Miner. Res. 18 624-636.
164. M.P. Whyte, K. Essmyer, M. Geimer and S. Mumm (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.
165. M.P. Whyte, S. Mumm and C. Deal (2007) Adult hypophosphatasia treated with teriparatide. J. Clin. Endocrinol. Metab. 92 1203-1208.
166. Whyte, M. P., Wenkert, D., McAlister, W. H., Mughal, Z., Freemont, A. J., Whitehouse, R., Baildam, E., and Mumm, S. (2008) Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia (submitted for publication).
167. P.L. Wolf (1978) Clinical significance of an increased or decreased serum alkaline phosphatase level. Arch. Pathol. Lab. Med. 102 497-501.
168. L.N. Wu, B.R. Genge and R.E. Wuthier (1992) Evidence for specific interaction between matrix vesicle proteins and the connective tissue matrix. Bone Miner. 17 247-252.
169. R.E. Wuthier and T.C. Register (1985) Role of alkaline phosphatase, a polyfunctional enzyme in mineralizing tissues. W.T. Butler (Eds) The Chemistry and Biology of Mineralized Tissues Birmingham: EBSCO Media 113-124.
170. M.H. Wyckoff, C. El-Turk, A. Laptook, C. Timmons, F.H. Gannon, X. Zhang, S. Mumm and M.P. Whyte (2005) Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin. J. Clin. Endocrinol. Metab. 90 1233-1240.
171. Y. Xu, T.F. Cruz and K.P. Pritzker (1991) Alkaline phosphatase dissolves calcium pyrophosphatase dihydrate crystals. J. Rheumatol. 18 1606-1610.
172. K. Yoon, E. Golub and G.A. Rodan (1989) Alkaline phosphatase cDNA transfected cells promote calcium and phosphate deposition. Connect. Tissue Res. 22 53-61.
173. G.P. Young, I.S. Rose, S. Cropper, S. Seetharam and D.H. Alpers (1984) Hepatic clearance of rat plasma intestinal alkaline phosphatase. Am. J. Physiol. 247 G419-gG426.
174. L. Zurutuza, F. Muller, J.F. Gibrat, A. Tillandier, B. Simon- Bouy, J.L. Serre and E. Mornet (1999) Correlations of genotype and phenotype in hypophosphatasia. Hum. Mol. Genet. 8 1039-1046.