Hypophosphatasia

Pediatric Bone

Volumn , Issue , 2012, Pages 771-794

  Whyte, Michael P ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 80053218301     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-382040-2.10028-0     Document Type: Chapter

References (241)

1. McKusick-Nathans Institute of Genetic Medicine, John Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD) July 1, 2011, Online Mendelian Inheritance in Man OMIM (TM). http://www.ncbi.nlm.nih.gov/omim/.
2. Whyte M.P. Hypophosphatasia. The Metabolic and Molecular Bases of Inherited Disease 2001, 5313-5329. McGraw-Hill, New York. 8th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
3. Whyte M.P. Hypophosphatasia: Nature's window on alkaline phosphatase function in humans. Principles of Bone Biology 2008, 1573-1598. Academic Press, San Diego. 3rd ed. J.P. Bilezikian, L.G. Raisz, T.J. Martin (Eds.).
4. Whyte M.P. Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann NY Acad Sci 2010, 1192:190-200.
5. McComb R.B., Bowers G.N., Posen S. Alkaline Phosphatase 1979, Plenum Press, New York.
6. Harris H. The human alkaline phosphatases: what we know and what we don't know. Clinica Chimica Acta 1990, 186:133-150.
7. Henthorn P.S. Alkaline phosphatase. Principles of Bone Biology 1996, 197-206. Academic Press, San Diego. J. Bilezikian, L. Raisz, G. Rodan (Eds.).
8. Millan J.L. Mammalian Alkaline Phosphatases: from Biology to Applications in Medicine and Biotechnology 2006, Wiley-VCH, Weinheim.
9. Moss D.W., Whitaker K.B. Modification of alkaline phosphatases by treatment with glycosidases. Enzyme 1985, 34:212-216.
10. Harris H. The Principles of Human Biochemical Genetics 1980, Elsevier/North-Holland Biomedical Press, Amsterdam. 3rd ed.
11. Smith M., Weiss M.J., Griffin C.A., et al. Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34. Genomics 1988, 2:139-143.
12. Griffin C.A., Smith M., Henthorn P.S., et al. Human placental and intestinal alkaline phosphatase genes map to 2q34-q37. Am J Hum Genet 1987, 41:1025-1034.
13. Cytogenet Cell Genet 1986, 40:1. Human Gene Mapping.
14. Berger J., Garattini E., Hua J.C., Udenfriend S. Cloning and sequencing of human intestinal alkaline phosphatase cDNA. Proc Natl Acad Sci USA 1987, 84:695-698.
15. Henthorn P.S., Raducha M., Edwards Y.H., et al. Nucleotide and amino acid sequences of human intestinal alkaline phosphatase: close homology to placental alkaline phosphatase. Proc Natl Acad Sci USA 1987, 84:1234-1238.
16. Weiss M.J., Ray K., Henthorn P.S., Lamb B., Kadesch T., Harris H. Structure of the human liver/bone/kidney alkaline phosphatase gene. J Biol Chem 1988, 263:12002-12010.
17. Kiledjian M., Kadesch T. Analysis of the human liver/bone/kidney alkaline phosphatase promoter in vivo and in vitro. Nucleic Acids Res 1990, 18:957-961.
18. Nosjean O., Koyama I., Goseki M., Roux B., Komoda T. Human tissue non-specific alkaline phosphatases: sugar-moiety-induced enzymic and antigenic modulations and genetic aspects. Biochem J 1997, 321:297-303.
19. Henthorn P.S., Whyte M.P. Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia. Clin Chem 1992, 38:2501-2505.
20. Kim E.E., Wyckoff H.W. Reaction mechanism of alkaline phosphatase based on crystal structures. Two-metal ion catalysis. J Molec Biol 1991, 218:449-464.
21. Hoylaerts M.F., Millan J.L. 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 1991, 202:605-616.
22. Hawrylak K., Stinson R.A. Tetrameric alkaline phosphatase from human liver is converted to dimers by phosphatidylinositol phospholipase C. FEBS Lett 1987, 212:289-291.
23. Xu Y., Cruz T.F., Pritzker K.P. Alkaline phosphatase dissolves calcium pyrophosphate dihydrate crystals. J Rheumatol 1991, 18:1606-1610.
24. Farley J.R. 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 immunoreactive protein. Calcif Tissue Int 1995, 57:371-378.
25. Seetharam B., Tiruppathi C., Alpers D.H. Hydrophobic interactions of brush border alkaline phosphatases: the role of phosphatidyl inositol. Arch Biochem Biophys 1987, 253:189-198.
26. Anh D.J., Dimai H.P., Hall S.L., Farley J.R. Skeletal alkaline phosphatase activity is primarily released from human osteoblasts in an insoluble form, and the net release is inhibited by calcium and skeletal growth factors. Calcif Tissue Int 1998, 62:332-340.
27. Krawitz P.M., Schweiger M.R., Rödelsperger C., et al. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet 2010, 42:827-829.
28. Young G.P., Rose I.S., Cropper S., Seetharam S., Alpers D.H. Hepatic clearance of rat plasma intestinal alkaline phosphatase. Am J Physiol 1984, 247:G419-G426.
29. Millan J.L., Whyte M.P., Avioli L.V., Fishman W.H. Hypophosphatasia (adult form): quantitation of serum alkaline phosphatase isoenzyme activity in a large kindred. Clin Chem 1980, 26:840-845.
30. Langman M.J., Leuthold E., Robson E.B., Harris J., Luffman J.E., Harris H. Influence of diet on the "intestinal" component of serum alkaline phosphatase in people of different ABO blood groups and secretor status. Nature 1966, 212:41-43.
31. Mulivor R.A., Boccelli D., Harris H. Quantitative analysis of alkaline phosphatases in serum and amniotic fluid: comparison of biochemical and immunologic assays. J Lab Clin Med 1985, 105:342-348.
32. Anderson H.C., Hsu H.H., Morris D.C., Fedde K.N., Whyte M.P. Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals. Am J Pathol 1997, 151:1555-1561.
33. Ornoy A., Adomian G.E., Rimoin D.L. Histologic and ultrastructural studies on the mineralization process in hypophosphatasia. Am J Med Genet 1985, 22:743-758.
34. Whyte M.P. Rickets and osteomalacia (acquired and heritable forms). The Oxford Textbook of Endocrinology and Diabetes 2002, 697-715. Oxford University Press, New York. J.A.H. Wass, S.M. Shalet (Eds.).
35. Robison R. The possible significance of hexosephosphoric esters in ossification. J Biol Chem 1923, 17:286-293.
36. Robison R., Soames K.M. The possible significance of hexosephosphoric esters in ossification: Part II. The phosphoric esterase of ossifying cartilage. Biochem J 1924, 18:740-754.
37. Robison R. The Significance of Phosphoteric Esters in Metabolism 1932, New York University Press, New York.
38. Whyte M.P. Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev 1994, 15:439-461.
39. Majeska R.J., Wuthier R.E. Studies on matrix vesicles isolated from chick epiphyseal cartilage. Association of pyrophosphatase and ATPase activities with alkaline phosphatase. Biochim Biophys Acta 1975, 391:51-60.
40. Fleisch H., Russell R.G., Straumann F. Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis. Nature 1966, 212:901-903.
41. Moss D.W., Eaton R.H., Smith J.K., Whitby L.G. Association of inorganic-pyrophosphatase activity with human alkaline-phosphatase preparations. Biochem J 1967, 102:53-57.
42. Leone F.A., Rezende L.A., Ciancaglini P., Pizauro J.M. Allosteric modulation of pyrophosphatase activity of rat osseous plate alkaline phosphatase by magnesium ions. Int J Biochem Cell Biol 1998, 30:89-97.
43. Russell R.G., Bisaz S., Donath A., Morgan D.B., 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.
44. Caswell A.M., Whyte M.P., Russell R.G. Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: clinical and laboratory aspects. Crit Rev Clin Lab Sci 1991, 28:175-232.
45. de Bernard B., Bianco P., Bonucci E., et al. Biochemical and immunohistochemical evidence that in cartilage an alkaline phosphatase is a Ca2+-binding glycoprotein. J Cell Biol 1986, 103:1615-1623.
46. Lau K.H., Farley J.R., Baylink D.J. 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 1985, 260:4653-4660.
47. Rathbun J.C. Hypophosphatasia: a new developmental anomaly. Am J Dis Child 1948, 75:822-831.
48. Currarino G., Neuhauser E.B., Reyersbach G.C., Sobel E.H. Hypophosphatasia. Am J Roentgenol Radium Ther Nucl Med 1957, 78:392-419.
49. Fraser D. Hypophosphatasia. Am J Med 1957, 22:730-746.
50. Sobel E.H., Clark L.C., Fox R.P., Robinow M. Rickets, deficiency of alkaline phosphatase activity and premature loss of teeth in childhood. Pediatrics 1953, 11:309-322.
51. Fraser D., Yendt E.R., Christie F.H. Metabolic abnormalities in hypophosphatasia. Lancet 1955, 268:286.
52. McCance R.A., Morrison A.B., Dent C.E. The excretion of phosphoethanolamine and hypophosphatasia. Lancet 1955, 268:131.
53. Russell R.G. Excretion of inorganic pyrophosphate in hypophosphatasia. Lancet 1965, 10:461-464.
54. Whyte M.P., Mahuren J.D., Vrabel L.A., Coburn S.P. Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. J Clin Invest 1985, 76:752-756.
55. Weiss M.J., Cole D.E., Ray K., et al. A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci USA 1988, 85:7666-7669.
56. Greenberg C.R., Taylor C.L., Haworth J.C., et al. A homoallelic Gly317→Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. Genomics 1993, 17:215-217.
57. Mornet E., Yvard A., Taillandier A., Fauvert D., Simon-Bouy B. A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet 2011, E-Pub.
58. Whyte M.P., Essmyer K., Geimer M., Mumm S. Homozygosity for TNSALP mutation 1348C>T (Arg 433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry. J Pediatr 2006, 148:753-758.
59. Taillard F., Desbois J.C., Delepine N., Gretillat F., Allaneau C., Herrault A. L'hypophosphatasie affection polymorphe de fréquence peut-être sous estimée. Infantile 1984, 91:559-576.
60. Whyte M.P., Teitelbaum S.L., Murphy W.A., Bergfeld M.A., Avioli L.V. Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature. Medicine (Baltimore) 1979, 58:329-347.
61. Whyte M.P., Murphy W.A., Fallon M.D. Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. Am J Med 1982, 72:631-641.
62. Terheggen H.G., Schildberg C., Schurer W., Van Sande M., Butzler O. Congenital hypophosphatasia. Report on two cases with special reference to phosphoethanolamine excretion. Mono Hum Genet 1972, 6:188.
63. Moore C.A., Ward J.C., Rivas M.L., Magill H.L., Whyte M.P. Infantile hypophosphatasia: autosomal recessive transmission to two related sibships. Am J Med Genet 1990, 36:15-22.
64. Macfarlane J.D., Kroon H.M., van der Harten J.J. Phenotypically dissimilar hypophosphatasia in two sibships. Am J Med Genet 1992, 42:117-121.
65. Moore C.A., Curry C.J., Henthorn P.S., et al. Mild autosomal dominant hypophosphatasia: in utero presentation in two families. Am J Med Genet 1999, 86:410-415.
66. Pauli R.M., Modaff P., Sipes S.L., Whyte M.P. Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. Am J Med Genet 1999, 86:434-438.
67. Stevenson D.A., Carey J.C., Coburn S.P., et al. Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. J Clin Endocrinol Metab 2008, 93:3443-3448.
68. Wenkert D, McAlister WH, Coburn SP et al. Hypophosphatasia: skeletal presentation in utero of non-lethal disease (seventeen new cases and literature review) 2011; J Bone Miner Res (in press).
69. Kozlowski K., Sutcliffe J., Barylak A., et al. Hypophosphatasia. Review of 24 cases. Pediatr Radiol 1976, 5:103-117.
70. Shohat M., Rimoin D.L., Gruber H.E., Lachman R.S. Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings. Pediatr Radiol 1991, 21:421-427.
71. Silver M.M., Vilos G.A., Milne K.J. Pulmonary hypoplasia in neonatal hypophosphatasia. Pediatr Pathol 1988, 8:483-493.
72. Ozono K., Yamagata M., Michigami T., et al. Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. J Clin Endocrinol Metab 1996, 81:4458-4461.
73. Whyte M.P. "Spur-limbed" dwarfism identified as hypophosphatasia [letter]. Dysmorphol Clin Genet 1988, 2:126-127.
74. 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.
75. Brenner R.L., Smith J.L., Cleveland W.W., Bejar R.L., Lockhart W.S. Eye signs of hypophosphatasia. Arch Ophthalmol 1969, 81:614-617.
76. Teree T.M., Klein L.R. Hypophosphatasia: clinical and metabolic studies. J Pediatr 1968, 72:41-50.
77. 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.
78. Collmann H., Mornet E., Gattenlohner S., Beck C., Girschick H. Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst 2009, 25:217-223.
79. Sty J.R., Boedecker R.A., Babbitt D.P. Skull scintigraphy in infantile hypophosphatasia. J Nucl Med 1979, 20:305-306.
80. 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 (Baltimore) 1984, 63:12-24.
81. Kjellman M., Oldfelt V., Nordenram A., Olow-Nordenram M. Five cases of hypophosphatasia with dental findings. Int J Oral Surg 1973, 2:152-158.
82. Lundgren T., Westphal O., Bolme P., Modeer T., Noren J.G. Retrospective study of children with hypophosphatasia with reference to dental changes. Scand J Dent Res 1991, 99:357-364.
83. Chapple I.L. Hypophosphatasia: dental aspects and mode of inheritance. J Clin Periodontol 1993, 20:615-622.
84. Bixler D. Heritable disorders affecting cementum and the periodontal structure. Oral Facial Genetics 1976, 262. Mosby, Saint Louis. R.E. Stewart, G.H. Prescott (Eds.).
85. Lepe X., Rothwell B.R., Banich S., Page R.C. Absence of adult dental anomalies in familial hypophosphatasia. J Periodontal Res 1997, 32:375-380.
86. Whyte M.P., Wenkert D., McAlister W.H., et al. Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. J Bone Miner Res 2009, 24:1493-1505.
87. Girschick H.J., Mornet E., Beer M., Warmuth-Metz M., Schneider P. Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy. BMC Pediatr 2007, 7:3.
88. Seshia S.S., Derbyshire G., Haworth J.C., Hoogstraten J. Myopathy with hypophosphatasia. Arc Dis Child 1990, 65:130-131.
89. Coe J.D., Murphy W.A., Whyte M.P. Management of femoral fractures and pseudofractures in adult hypophosphatasia. J Bone Joint Surg (Am) 1986, 68:981-990.
90. Whyte M.P. Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res 2009, 24:1132-1134.
91. Khandwala H.M., Mumm S., Whyte M.P. Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood. Endocr Pract 2006, 12:676-681.
92. Whyte M.P., Mumm S., Deal C. Adult hypophosphatasia treated with teriparatide. J Clin Endocrinol Metab 2007, 92:1203-1208.
93. Wendling D., Cassou M., Guidet M. Hypophosphatasia in adults. Apropos of 2 cases. Rev Rhum Mal Osteoartic 1985, 52:43-50.
94. O'Duffy J.D. Hypophosphatasia associated with calcium pyrophosphate dihydrate deposits in cartilage. Report of a case. Arthritis Rheum 1970, 13:381-388.
95. Chuck A.J., Pattrick M.G., Hamilton E., Wilson R., Doherty M. Crystal deposition in hypophosphatasia: a reappraisal. Ann Rheum Dis 1989, 48:571-576.
96. Lassere M.N., Jones J.G. Recurrent calcific periarthritis, erosive osteoarthritis and hypophosphatasia: a family study. J Rheumatol 1990, 17:1244-1248.
97. Page R.C., Baab D.A. A new look at the etiology and pathogenesis of early-onset periodontitis. Cementopathia revisited. J Periodontol 1985, 56:748-751.
98. Scriver C.R., Cameron D. Pseudohypophosphatasia. N Engl J Med 1969, 281:604-606.
99. Moore C.A., Wappner R.S., Coburn S.P., Mulivor R.A., Fedde K.N. Pseudohypophosphatasia: clinical, radiographic, and biochemical characterization of a second case (abstract). Am J Human Genet 1990, 47. A-68.
100. Cole D.E., Salisbury S.R., Stinson R.A., Coburn S.P., Ryan L.M., Whyte M.P. Increased serum pyridoxal-5'-phosphate in pseudohypophosphatasia. N Engl J Med 1986, 314:992-993.
101. Fedde K.N., Cole D.E., Whyte M.P. Pseudohypophosphatasia: aberrant localization and substrate specificity of alkaline phosphatase in cultured skin fibroblasts. Am J Human Genet 1990, 47:776-783.
102. Heaton B.W., McClendon J.L. Childhood pseudohypophosphatasia. Clinical and laboratory study of two cases. Tex Dent J 1986, 103:4-8.
103. Mehes K., Klujber L., Lassu G., Kajtar P. Hypophosphatasia: screening and family investigations in an endogamous Hungarian village. Clin Genet 1972, 3:60-66.
104. Rubecz I., Mehes K., Klujber L., Bozzay L., Weisenbach J., Fenyvesi J. Hypophosphatasia: screening and family investigation. Clin Genet 1974, 6:155-159.
105. Kleinman G., Uri M., Hull S., Keene C. Perinatal ultrasound casebook. Antenatal findings in congenital hypophosphatasia. J Perinatol 1991, 11:282-284.
106. Weinstein R.S., Whyte M.P. Heterogeneity of adult hypophosphatasia. Report of severe and mild cases. Arch Intern Med 1981, 141:727-731.
107. Macfarlane J.D., Souverijn J.H., Breedveld F.C. Clinical significance of a low serum alkaline phosphatase. Netherlands J Med 1992, 40:9-14.
108. Royce P.M., Blumberg A., Zurbrugg R.P., Zimmermann A., Colombo J.P., Steinmann B. Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia. Euro J Ped 1988, 147:626-631.
109. Wyckoff M.H., El-Turk C., Laptook A., et al. Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin. J Clin Endocrinol Metab 2005, 90:1233-1240.
110. El-Gharbawy A.H., Peeden J.N., Lachman R.S., Graham J.M., Moore S.R., Rimoin D.L. Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. Am J Med Genet A 2010, 152A:169-174.
111. Chines A., Coburn S., Mahuren D., Landt M., Ryan L., Whyte M.P. Hypophosphatasia (HPP): diagnostic sensitivity of assay for alkaline phosphatase (ALP), phosphoethanolamine (PEA), inorganic pyrophosphate (PPi) and pyridoxal-5'-phosphate (PLP). J Bone Miner Res 1994, 9. S-425.
112. Pillans P.I., Berman P., Saunders S.J. Cholestatic jaundice with a normal serum alkaline phosphatase level: another case of hypophosphatasia in an adult. Gastroenterology 1983, 84:175-177.
113. Whyte M.P., Seino Y. Circulating vitamin D metabolite levels in hypophosphatasia. J Clin Endocrinol Metab 1982, 55:178-180.
114. Opshaug O., Maurseth K., Howlid H., Aksnes L., Aarskog D. Vitamin D metabolism in hypophosphatasia. Acta Paediatr Scand 1982, 71:517-521.
115. Taillard F., Desbois J.C., Gueris J., et al. Inorganic pyrophosphates and parathormone in hypophosphatasia. Study of a family. Biomed Pharmacother 1985, 39:236-241.
116. Whyte M.P., Rettinger S.D. Hyperphosphatemia due to enhanced renal reclamation of phosphate in hypophosphatasia. (abstract). J Bone Miner Res 1987, S2.
117. Rutsch F., Böyer P., Nitschke Y., et al. Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ Cardiovasc Genet 2008, 1:133-140.
118. Nusynowitz M.L. Low serum alkaline phosphatase level, hypophosphataemia, and aching extremities (letter). J Am Med Assoc 1979, 242:2800-2801.
119. Juan D., Lambert P.W., Vitamin D. Metabolism and phosphorus absorption studies in a case of coexistent vitamin D resistant rickets and hypophosphatasia. Hormonal Control of Calcium Metabolism 1981, Excerpta Medica, Amsterdam, p. 465. D.V. Cohn, R.V. Talmage, J.L. Matthews (Eds.).
120. Rettinger S.D., Whyte M.P. Normal circulating acid phosphatase activity in hypophosphatasia. J Inherit Metab Dis 1985, 8:161-162.
121. Iqbal S.J. Persistently raised serum acid phosphatase activity in a patient with hypophosphatasia: electrophoretic and molecular weight characterisation as type 5. Clin Chim Acta 1998, 271:213-220.
122. De Vries H.R., Duran M., De Bree P.K., Wadman S.K. A patient with hypophosphatasia and hyperprolinaemia. Neth J Med 1978, 21:28-34.
123. Rasmussen K. Phosphorylethanolamine and hypophosphatasia. Dan Med Bull 1968, 15:1-112.
124. Licata A.A., Radfar N., Bartter F.C., Bou E. The urinary excretion of phosphoethanolamine in diseases other than hypophosphatasia. Am J Med 1978, 64:133-138.
125. Tecza S., Prandota J., Morawska Z., Rudzka M., Pankow-Prandota L. Hypophosphatasia with normal urinary phosphoethanolamine in a 22-month-old girl. Pediatr Pol 1980, 55:791-796.
126. Coburn SP, Whyte MP, Leklem JE, Reynolds RD. Role of phosphatases in the regulation of vitamin B-6 metabolism in hypophosphatasia and other disorders. Clinical and physiological applications of vitamin B-6. Proceedings of the Third International Conference on Vitamin B-6. New York: AR Liss; 1988. p. 65-93.
127. Chodirker B.N., Coburn S.P., Seargeant L.E., Whyte M.P., Greenberg C.R. Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia. J Inherit Metab Dis 1990, 13:891-896.
128. Macfarlane J.D., Poorthuis B.J., Mulivor R.A., Caswell A.M. Raised urinary excretion of inorganic pyrophosphate in asymptomatic members of a hypophosphatasia kindred. Clin Chim Acta 1991, 202:141-148.
129. Girschick H.J., Haubitz I., Hiort O., Schneider P. Long-term follow-up of bone mineral density in childhood hypophosphatasia. Joint Bone Spine 2007, 74:263-269.
130. Zhang F, Whyte MP, Wenkert D. Improving dual-energy x-ray absorptiometry (DXA) interpretation: A simple equation for height correction for pre-teenage children. 2011; (Submitted for publication.).
131. Nomura Y., Mori Hypophosphatasia W. Histopathology of human temporal bones. J Laryngol Otol 1968, 82:1129-1136.
132. Manicourt D., Orloff S., Taverne-Verbanck J. Osteomalacia in hyperphosphoethanolaminuria without hypophosphatasia. Ann Endocrinol (Paris) 1979, 40:167-168.
133. Beumer J., Trowbridge H.O., Silverman S., Eisenberg E. Childhood hypophosphatasia and the premature loss of teeth. A clinical and laboratory study of seven cases. Oral Surg Oral Med Oral Pathol 1973, 35:631-640.
134. el-Labban N.G., Lee K.W., Rule D. Permanent teeth in hypophosphatasia: light and electron microscopic study. J Oral Pathol Med 1991, 20:352-360.
135. Ramer M., Basta R., Fisher K. Childhood hypophosphatasia. A case report. NY State Dent J 1997, 63:36-39.
136. Whyte M.P., Mumm S., McAlister W.H., et al. Hypophosphatasia: natural history in childhood delineated from 25 years experience with 174 pediatric patients 2011, (In Manuscript).
137. Vanneuville F.J., Leroy J.G. Hypophosphatasia: biochemical diagnosis in post-mortem organs, plasma and diploid skin fibroblasts [proceedings]. Arch Int Physiol Biochim 1979, 87:854-855.
138. Mueller H.D., Stinson R.A., Mohyuddin F., Milne J.K. Isoenzymes of alkaline phosphatase in infantile hypophosphatasia. J Lab Clin Med 1983, 102:24-30.
139. Gorodischer R., Davidson R.G., Mosovich L.L., Yaffe S.J. Hypophosphatasia: a developmental anomaly of alkaline phosphatase?. Pediatr Res 1976, 10:650-656.
140. Whyte M.P., Vrabel L. Infantile Hypophosphatasia: complementation analysis with skin fibroblast heterokaryons suggests a defect(s) at a single gene locus (abstract). Am J Hum Genet. 1984, 26. S209.
141. Beisel W.R., Austen K.F., Rosen H., Herndon E.G. Metabolic observations in adult hypophosphatasia. Am J Med 1960, 29:369-376.
142. Iqbal S.J. Increase in leukocyte alkaline phosphatase in a patient with hypophosphatasia during pregnancy. J Inherit Metabolic Dis 1998, 21:83-84.
143. Fallon M.D., Whyte M.P., Weiss M.J., Harris H. 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 (abstract). J Bone Miner Res 1989, 4. S304.
144. Goseki M., Oida S., Takagi Y., Okuyama T., Watanabe J., Sasaki S. Immunological study on hypophosphatasia. Clin Chim Acta 1990, 190:263-268.
145. Whyte M.P., Walkenhorst D.A., Fedde K.N., Henthorn P.S., Hill C.S. Hypophosphatasia: Levels of bone alkaline phosphatase immunoreactivity in serum reflect disease severity. J Clin Endocrinol Metab 1996, 81:2142-2148.
146. Whyte M.P., Rettinger S.D., Vrabel L.A. Infantile hypophosphatasia: enzymatic defect explored with alkaline phosphatase-deficient skin fibroblasts in culture. Calcif Tissue Int 1987, 40:244-252.
147. Whyte M.P., Mahuren J.D., Fedde K.N., Cole F.S., McCabe E.R., Coburn S.P. 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.
148. Danovitch S.H., Baer P.N., Laster L. Intestinal alkaline phosphatase activity in familial hypophosphatasia. N Engl J Med 1968, 278:1253-1260.
149. Fedde K.N., Michell M.P., Henthorn P.S., Whyte M.P. Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia. J Clin Endocrinol Metab 1996, 81:2587-2594.
150. Whyte M.P., Vrabel L.A., Schwartz T.D. Alkaline phosphatase deficiency in cultured skin fibroblasts from patients with hypophosphatasia: comparison of the infantile, childhood, and adult forms. J Clin Endocrinol Metab 1983, 57:831-837.
151. Schneider R.W., Corcoran A.C. Familial nephrogenic osteopathy due to excessive tubular reabsorption of inorganic phosphate; a new syndrome and a novel mode of relief. J Lab Clin Med 1950, 36:985-986.
152. Pimstone B., Eisenberg E., Silverman S. Hypophosphatasia: Genetic and dental studies. Ann Intern Med 1966, 65:722-729.
153. Harris H., Robson E.B. A genetical study of ethanolamine phosphate excretion in hypophosphatasia. Ann Hum Genet 1959, 23:421-441.
154. Barrett A.M., Fairweather D.V., McCance R.A., Morrison A.B. Genetic, clinical, biochemical, and pathological features of hypophosphatasia; based on the study of a family. Q J Med 1956, 25:523-537.
155. Eberle F., Hartenfels S., Pralle H., Kabisch A. Adult hypophosphatasia without apparent skeletal disease: "odontohypophosphatasia" in four heterozygote members of a family. Klin Wochenschr 1984, 62:371-376.
156. Silverman J.L. Apparent dominant inheritance of hypophosphatasia. Arch Intern Med 1962, 110:191-198.
157. Eastman J.R., Bixler D. Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality. J Craniofac Genet Dev Biol 1983, 3:213-234.
158. Eastman J., Bixler D. Lethal and mild hypophosphatasia in half-sibs. J Craniofac Genet Dev Biol 1982, 2:35-44.
159. Sorensen S.A., Flodgaard H., Sorensen E. Serum alkaline phosphatase, serum pyrophosphatase, phosphorylethanolamine and inorganic pyrophosphate in plasma and urine. A genetic and clinical study of hypophosphatasia. Mono Hum Genet 1978, 10:66-69.
160. Lowry R.B., Snyder F.F., Wesenberg R.L., et al. Morquio syndrome (MPS IVA) and hypophosphatasia in a Hutterite kindred. Am J Med Genet 1985, 22:463-475.
161. Blaskovics M.E., Shaw K.N. Hypophosphatasia with phenylketonuria. Z Kinderheilkd 1974, 117:265-273.
162. Chodirker B.N., Evans J.A., Lewis M., et al. Infantile hypophosphatasia-linkage with the RH locus. Genomics 1987, 1:280-282.
163. 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. Pro Natl Acad Sci USA 1992, 89:9924-9928.
164. Shibata H., Fukushi M., Igarashi A., et al. Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162→Thr mutation associated with lethal hypophosphatasia. J Biochem (Tokyo) 1998, 123:968-977.
165. Mornet E., Taillandier A., Peyramaure S., et al. Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Eur J Hum Genet 1998, 6:308-314.
166. Henthorn P., Ferrero A., Fedde K., Coburn S.P., Whyte M.P. Hypophosphatasia mutation D361V exhibits dominant effects both in vivo and in vitro (abstract). Am J Hum Genet 1996, 59. A-199.
167. Whyte M.P. Hypophosphatasia. The Genetics of Osteoporosis and Metabolic Bone Disease 2000, 335-336. Humana Press, Totowa. M.J. Econs (Ed.).
168. Fukushi M., Amizuka N., Hoshi K., et al. Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317→Asp substitution associated with lethal hypophosphatasia. Biochem Biophys Res Commun 1998, 246:613-618.
169. Goseki-Sone M., Orimo H., Iimura T., et al. Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients. Hum Mutat 1998, (Suppl. 1):S263-S267.
170. Sugimoto N., Iwamoto S., Hoshino Y., Kajii E. A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia. J Hum Genet 1998, 43:160-164.
171. Orimo H., Hayashi Z., Watanabe A., Hirayama T., Hirayama T., Shimada T. Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. Hum Mol Genet 1994, 3:1683-1684.
172. Orimo H., Goseki-Sone M., Sato S., Shimada T. Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification. Genomics 1997, 42:364-366.
173. Mumm S., Jones J., Henthorn P.S., Eddy M.C., Whyte M.P. Mutational analysis of the bone alkaline phosphatase gene in hypophosphatasia (abstract). Bone 1998, 23. S281.
174. Mornet E. Tissue nonspecific alkaline phosphatase gene mutations database Yvelines (France) July 4, 2007, SESEP Laboratory at the University of Versailles-Saint Quentin, ed; 2004.
175. Goseki-Sone M., Orimo H., Iimura T., et al. Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients. J Bone Miner Res 1998, 13:1827-1834.
176. Mumm S., Wenkert D., Zhang X., Geimer M., Zerega J., Whyte M.P. Hypophosphatasia: The c.1133A>T, p.D378V transversion is the most common American TNSALP mutation (abstract). J Bone Miner Res 2006, 21:S115.
177. Whyte M.P., Magill H.L., Fallon M.D., Herrod H.G. 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 1986, 108:82-88.
178. Whyte M.P., McAlister W.H., Patton L.S., 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.
179. Whyte M.P., Essmyer K., Geimer M., Mumm S. 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 2006, 148:753-758.
180. Whyte MP, Greenberg CR, Salman NJ et al. Enzyme replacement for life-threatening hypophosphatasia. 2010; (Submitted for publication).
181. Caswell A.M., Whyte M.P., Russell R.G. Hypophosphatasia: pediatric forms. J Pediatr Endocrinol 1989, 3:73-92.
182. Weinstein R.S., Whyte M.P. Fifty-year follow-up of hypophosphatasia. Arch Int Med 1981, 141:1720-1721.
183. Jacobson D.P., McClain E.J. Hypophosphatasia in monozygotic twins. A case report. J Bone Joint Surg Am 1967, 49:377-380.
184. Girschick H.J., Schneider P., Haubitz I., et al. Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. Orphanet J Rare Dis 2006, 1:24.
185. Scaglione P.R., Lucey J.F. Further observations on hypophosphatasia. Am J Dis Child 1956, 92:493-495.
186. Barcia J.P., Strife C.F., Langman C.B. Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization. J Pediatr 1997, 130:825-828.
187. Deeb A.A., Bruce S.N., Morris A.A., Cheetham T.D. Infantile hypophosphatasia: disappointing results of treatment. Acta Paediatr 2000, 89:730-733.
188. Fraser D., Laidlaw J.C. Treatment of hypophosphatasia with cortisone. Lancet 1956, 1:553.
189. Camacho P.M., Painter S., Kadanoff R. Treatment of adult hypophosphatasia with teriparatide. Endocr Pract 2008, 14:204-208.
190. Schalin-Jantti C., Mornet E., Lamminen A., Valimaki M.J. Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia. J Clin Endocrinol Metab 2010, 95:5174-5179.
191. Bongiovanni A.M., Album M.M., Root A.W., Hope J.W., Marino J., Spencer D.M. Studies in hypophosphatasia and response to high phosphate intake. Am J Med Sci 1968, 255:163-170.
192. Gagnon C., Sims N.A., Mumm S., et al. Lack of sustained response to teriparatide in a patient with adult hypophosphatasia. J Clin Endocrinol Metab 2010, 95:1007-1012.
193. Whyte M.P., Habib D., Coburn S.P., et al. 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:S155.
194. Macpherson R.I., Kroeker M., Houston C.S. Hypophosphatasia. J Can Assoc Radiol 1972, 23:16-26.
195. Albeggiani A., Cataldo F. Infantile hypophosphatasia diagnosed at 4 months and surviving at 2 years. Helv Paediatr Acta 1982, 37:49-58.
196. Weninger M., Stinson R.A., Plenk H., 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.
197. Whyte M.P., Landt M., Ryan L.M., 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.
198. Whyte M.P., Kurtzberg J., McAlister W.H., et al. Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res 2003, 18:624-636.
199. Cahill R.A., Wenkert D., Perlman S.A., et al. Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts. J Clin Endocrinol Metab 2007, 92:2923-2930.
200. Fedde K.N., Blair L., Terzic F., et al. Amelioration of the skeletal disease in hypophosphatasia by bone marrow transplantation using the alkaline phosphatase-knockout mouse model (abstract). Am J Hum Genet 1996, 59:A15.
201. Yamamoto S., Orimo H., Matsumoto T., et al. Prolonged survival and phenotypic correction of Akp2(-/-) hypophosphatasia mice by lentiviral gene therapy. J Bone Miner Res 2011, 26:135-142.
202. 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.
203. Millan J.L., Narisawa S., Lemire I., et al. Enzyme replacement therapy for murine hypophosphatasia. J Bone Miner Res 2008, 23:777-787.
204. McKee M., Nakano Y., Masica D.L., et al. Enzyme replacement therapy prevents dental defects in a model of hypophosphatasia. J Dent Res 2011, 90:470-476.
205. Whyte M.P., Greenberg C.R., Wenkert D., et al. Hypophosphatasia (HPP): enzyme replacement therapy (EzRT) for children using bone-targeted, tissue nonspecific alkaline phosphatase. Annual Endocrine Society Meeting 2010, (abstract).
206. Whyte M.P., Greenberg C.R., et al. Hypophosphatasia: Enzyme replacement therapy for children using bone-targeted, tissue-nonspecific alkaline phosphatase. J Bone Miner Res 2010, 25. S5.
207. Rudd N.L., Miskin M., Hoar D.I., Benzie R., Doran T.A. Prenatal diagnosis of hypophosphatasia. N Engl J Med 1976, 295:146-148.
208. Mulivor R.A., Mennuti M., Zackai E.H., Harris H. Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies. Am J Hum Genet 1978, 30:271-282.
209. Warren R.C., McKenzie C.F., Rodeck C.H., Moscoso G., Brock D.J., Barron L. First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase. Lancet 1985, 2:856-858.
210. Brock D.J., Barron L. First-trimester prenatal diagnosis of hypophosphatasia: experience with 16 cases. Prenatal Diagn 1991, 11:387-391.
211. Muller F., Oury J.F., Bussiere P., Lewin F., Boue J. First-trimester diagnosis of hypophosphatasia. Importance of gestational age and purity of CV samples. Prenat Diagn 1991, 11:725-730.
212. Greenberg C.R., Evans J.A., McKendry-Smith S., et al. Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. Am J Hum Genet 1990, 46:286-292.
213. Kishi F., Matsuura S., Murano I., Akita A., Kajii T. Prenatal diagnosis of infantile hypophosphatasia. Prenat Diagn 1991, 11:305-309.
214. van Dongen P.W., Hamel B.C., Nijhuis J.G., de Boer C.N. Prenatal follow-up of hypophosphatasia by ultrasound: case report. Eur J Obstet Gynecol Reprod Biol 1990, 34:283-288.
215. Kousseff B.G., Mulivor R.A. Prenatal diagnosis of hypophosphatasia. Obstet Gynecol 1981, 57(Suppl-12S).
216. Garber A.P., Sillence D.O., Lachman R.S., et al. Discordance between ultrasound and radiographic/biochemical findings in the prenatal diagnosis of congenital lethal hypophosphatasia. The National Foundation March of Dimes Birth Defects Conference; June 24-27 1979, Ilinois, Chicago, p. 61.
217. Hausser C., Habib R., Poitras P. Hypophosphatasia: complete absence of the fetal skeleton. Union Med Can 1984, 113:978-979.
218. Orimo H., Nakajima E., Hayashi Z., et al. First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family. Prenat Diagn 1996, 16:559-563.
219. Henthorn P.S., Whyte M.P. Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations. Prenatal Diagn 1995, 15:1001-1006.
220. 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.
221. Narisawa S., Frohlander N., Millan J.L. Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia. Dev Dynamics 1997, 208:432-446.
222. Fedde K.N., 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.
223. Hough T.A., Polewski M., Johnson K., et al. 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 2007, 22:1397-1407.
224. Whyte M.P., Vrabel L.A. 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 1987, 40:1-7.
225. Fedde K.N., Michel M.P., Whyte M.P. Evidence against a role for alkaline phosphatase in the dephosphorylation of plasma membrane proteins: hypophosphatasia fibroblast study. J Cell Biochem 1993, 53:43-50.
226. Gron I.H. Mammalian O-phosphorylethanolamine phosphor-lyase activity and its inhibition. Scand J Clin Lab Invest 1978, 38:107-112.
227. Dolphin D., Poulson R., Avramovic O. Vitamin B6 Pyridoxal Phosphate: Chemical, Biochemical, and Medical Aspects 1986, Wiley, New York.
228. Whyte M.P., Mahuren J.D., Scott M.J., Coburn S.P. Hypophosphatasia: Pyridoxal-5'-phosphate levels are markedly increased in hypophosphatasemic plasma but normal in alkaline phosphatase-deficient fibroblasts (evidence for an ectoenzyme role for alkaline phosphatase in vitamin B6 metabolism) (abstract). J Bone Miner Res 1986, 1. S92.
229. Takahashi T, Iwantanti A, Mizuno S et al. The relationship between phosphoethanolamine level in serum and intractable seizure on hypohosphatasia infantile form. Endocrine control of bone and calcium metabolism. Proceedings of the Eighth International Conference on Calcium Regulating Hormones, Kobe-Kyoto-Niigata-Osaka-Tokyo, Japan, October 16-24, 1983. Amsterdam: Excerpta Medica; 1984. p. 93-4.
230. Posen S., Whyte M.P., Coburn S.P., et al. Infantile hypophosphatasia with fatal status epilepticus (abstract). J Bone Miner Res 1997, 12. S528.
231. Balasubramaniam S., Bowling F., Carpenter K., et al. Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability. J Inherit Metab Dis 2010, E-pub DOI: 10.1007/s10545-009-9012-7.
232. Low M.G., Saltiel A.R. Structural and functional roles of glycosyl-phosphatidylinositol in membranes. Science 1988, 239:268-275.
233. Fedde K.N., Lane C.C., Whyte M.P. Alkaline phosphatase is an ectoenzyme that acts on micromolar concentrations of natural substrates at physiologic pH in human osteosarcoma (SAOS-2) cells. Arch Biochem Biophysics 1988, 264:400-409.
234. Fedde K.N., Whyte M.P. Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal- 5'-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study. A J Hum Genet 1990, 47:767-775.
235. Caswell A.M., Whyte M.P., Russell R.G. Normal activity of nucleoside triphosphate pyrophosphatase in alkaline phosphatase-deficient fibroblasts from patients with infantile hypophosphatasia. J Clin Endocrinol Metab 1986, 63:1237-1241.
236. Whyte M.P., McAlister W.H., Patton L.S., 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.
237. Fraser D., Yendt E.R., Christie F.H. Metabolic abnormalities in hypophosphatasia. Lancet 1955, 268:286.
238. Yadav M.C., Simao A.M., Narisawa S., et al. Loss of skeletal mineralization by the simultaneous ablation of PHOSPHO1 and alkaline phosphatase function: a unified model of the mechanisms of initiation of skeletal calcification. J Bone Miner Res 2011, 26:286-297.
239. Harmey D., Hessle L., Narisawa S., Johnson K.A., Terkeltaub R., Millan 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.
240. Orimo H. The mechanism of mineralization and the role of alkaline phosphatase in health and disease. J Nippon Med Sch 2010, 77:4-12.
241. Murshed M., Harmey D., Millan J.L., McKee M.D., 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.