• 1
    Fasth A, Porras O 1999 Human malignant osteopetrosis: Pathophysiology, management and the role of bone marrow transplantation. Pediatr Transplant 3(Suppl 7):102107.
  • 2
    Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, Babul-Hirji R, Baric I, Canham N, Chitayat D, Dupuis-Girod S, Ellis I, Etzioni A, Fasth A, Fisher A, Gerritsen B, Gulino V, Horwitz E, Klamroth V, Lanino E, Mirolo M, Musio A, Matthijs G, Nonomaya S, Notarangelo LD, Ochs HD, Superti Furga A, Valiaho J, van Hove JL, Vihinen M, Vujic D, Vezzoni P, Villa A 2001 The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 10:17671773.
  • 3
    Whyte MP 2002 Osteopetrosis. In: RoycePM, SteinmannB (eds.) Connective Tissue & Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, 2nd ed. Wiley-Liss, New York, NY, USA, pp. 789907.
  • 4
    Marie PJ 1999 Cellular and molecular alterations of osteoblasts in human disorders of bone formation. Histol Histopathol 14:525538.
  • 5
    Marie PJ 1998 Osteoblasts and bone formation. Adv Organ Biol 5B:445473.
  • 6
    Aubin JE, Liu F 2002 The osteoblast lineage. In: BilezikianJP, RaiszLG, RodanGA (eds.) Principles of Bone Biology, 2nd ed. Academic Press, San Diego, CA, USA, pp. 5167.
  • 7
    Triffitt JT 2002 The stem cell of the osteoblast. In: BilezikianJP, RaiszLG, RodanGA (eds.) Principles of Bone Biology, 2nd ed. Academic Press, San Diego, CA, USA, pp. 3950.
  • 8
    Krebsbach PH, Kuznetsov SA, Satomura K, Emmons RV, Rowe DW, Robey PG 1997 Bone formation in vivo: Comparison of osteogenesis by transplanted mouse and human marrow stromal fibroblasts. Transplantation 63:10591069.
  • 9
    Turgeman G, Pittman DD, Muller R, Kurkalli BG, Zhou S, Pelled G, Peyser A, Zilberman Y, Moutsatsos IK, Gazit D 2001 Engineered human mesenchymal stem cells: A novel platform for skeletal cell mediated gene therapy. J Gene Med 3:240251.
  • 10
    Prockop DJ 1997 Marrow stromal cells as stem cells for nonhematopoietic tissues. Science 276:7174.
  • 11
    McKusick VA 1998 Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders, 12th ed. Johns Hopkins University Press, Baltimore, MD, USA.
  • 12
    Whyte MP 2002 Hypophosphatasia: Nature's window on alkaline phosphatase function in man. In: BilezikianJP, RaiszLG, RodanGA (eds.) Principles of Bone Biology, 2nd ed. Academic Press, San Diego, CA, USA, pp. 12291248.
  • 13
    Whyte MP 2001 Hypophosphatasia. In: ScriverCR, BeaudetAL, SlyWS, ValleD (eds.) The Metabolic and Molecular Bases of Inherited Disease, 8th ed. McGraw-Hill, New York, NY, USA, pp. 53135329.
  • 14
    Weiss MJ, Cole DE, Ray K, Whyte MP, Lafferty MA, Mulivor RA, Harris H 1988 A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci USA 85:76667669.
  • 15
    Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP 1992 Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Natl Acad Sci USA 89:99249928.
  • 16
    Whyte MP 2000 Hypophosphatasia. In: EconsMJ (ed.) The Genetics of Osteoporosis and Metabolic Bone Disease. Humana Press, Totowa, NJ, USA, pp. 335356.
  • 17
    Mumm S, Jones J, Finnegan P, Henthorn P, Podgornik MN, Whyte MP 2002 Denaturing gradient gel electrophoresis analysis of the tissue non-specific alkaline phosphatase isoenzyme gene in hypophosphatasia. Mol Genet Metab 75:143153.
  • 18
    Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, Brenner R, Bussiere P, Freisinger P, Godard J, Le Merrer M, Oury JF, Plauchu H, Puddu R, Rival JM, Superti-Furga A, Touraine RL, Serre JL, Simon-Bouy B 1998 Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Eur J Hum Genet 6:308314.
  • 19
    Mornet E 2000 Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat 15:309315.
  • 20
    Whyte MP 1994 Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev 15:439461.
  • 21
    Whyte MP, Mahuren JD, Fedde KN, Cole FS, McCabe ER, Coburn SP 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 81:12341239.
  • 22
    Fedde KN, Whyte MP 1990 Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal- 5′-phosphate ectophosphatase: Normal and hypophosphatasia fibroblast study. Am J Hum Genet 47:767775.
  • 23
    Whyte MP, Landt M, Ryan LM, Mulivor RA, Henthorn PS, Fedde KF, Coburn SP 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 95:14401445.
  • 24
    Whyte MP, Mahuren JD, Vrabel LA, Coburn SP 1985 Markedly increased circulating pyridoxal-5′-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. J Clin Invest 76:752756.
  • 25
    Moss DW, Eaton RH, Smith JK, Whitby LG 1967 Association of inorganic-pyrophosphatase activity with human alkaline-phosphatase preparations. Biochem J 102:5357.
  • 26
    Caswell AM, Whyte MP, Russell RG 1991 Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: Clinical and laboratory aspects. Crit Rev Clin Lab Sci 28:175232.
  • 27
    Fleisch H, Russell RG, Straumann F 1966 Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis. Nature 212:901903.
  • 28
    Anderson HC, Hsu HH, Morris DC, Fedde KN, Whyte MP 1997 Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals. Am J Pathol 151:15551561.
  • 29
    Caswell AM, Whyte MP, Russell RG 1986 Normal activity of nucleoside triphosphate pyrophosphatase in alkaline phosphatase-deficient fibroblasts from patients with infantile hypophosphatasia. J Clin Endocrinol Metab 63:12371241.
  • 30
    Whyte MP, Walkenhorst DA, Fedde KN, Henthorn PS, Hill CS 1996 Hypophosphatasia: Levels of bone alkaline phosphatase immunoreactivity in serum reflect disease severity. J Clin Endocrinol Metab 81:21422148.
  • 31
    Fedde KN, Michell MP, Henthorn PS, Whyte MP 1996 Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia. J Clin Endocrinol Metab 81:25872594.
  • 32
    Whyte MP, Valdes R Jr, Ryan LM, McAlister WH 1982 Infantile hypophosphatasia: Enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease. J Pediatr 101:379386.
  • 33
    Whyte MP, McAlister WH, Patton LS, Magill HL, Fallon MD, Lorentz WB, Herrod HG 1984 Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: Results in three additional patients. J Pediatr 105:926933.
  • 34
    Whyte MP, Habib D, Coburn SP, Tecklenburg F, Ryan L, Fedde KN, Stinson RA 1992 Failure of hyperphosphatasemia by intravenous infusion of purified placental alkaline phosphatase (ALP) to correct severe hypophosphatasia: Evidence against a role for circulating ALP in skeletal mineralization. J Bone Miner Res 7:S1;S155.
  • 35
    Wenkert D, Podgornik MN, Coburn SP, Ryan LM, Mumm S, Whyte MP 2002 Dietary Phosphate restriction therapy for hypophosphatasia: Preliminary observations. J Bone Miner Res 17:S1;S384.
  • 36
    Fraser D, Laidlaw JC 1956 Treatment of hypophosphatasia with cortisone. Lancet 1:553.
  • 37
    Barcia JP, Strife CF, Langman CB 1997 Infantile hypophosphatasia: Treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization. J Pediatr 130:825828.
  • 38
    Fedde KN, Blair L, Terzic F, Anderson HC, Narisawa S, Millan JL, Whyte MP 1996 Amelioration of the skeletal disease in hypophosphatasia by bone marrow transplantation using the alkaline phosphatase-knockout mouse model. Am J Hum Genet 59:A15.
  • 39
    Lazarus HM, Haynesworth SE, Gerson SL, Rosenthal NS, Caplan AI 1995 Ex vivo expansion and subsequent infusion of human bone marrow-derived stromal progenitor cells (mesenchymal progenitor cells): Implications for therapeutic use. Bone Marrow Transplant 16:557564.
  • 40
    Cheung CP, Suhadolnik RJ 1977 Analysis of inorganic pyrophosphate at the picomole level. Anal Biochem 83:6163.
  • 41
    Mahuren JD, Coburn SP 1991 B6 vitamers: Cation exchange HPLC. J Nutr Biochem 1:659663.
  • 42
    Taillandier A, Lia-Baldini AS, Mouchard M, Robin B, Muller F, Simon-Bouy B, Serre JL, Bera-Louville A, Bonduelle M, Eckhardt J, Gaillard D, Myhre AG, Kortge-Jung S, Larget-Piet L, Malou E, Sillence D, Temple IK, Viot G, Mornet E 2001 Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. Hum Mutat 18:8384.
  • 43
    Orimo H, Girschick NH, Goseki-Sone M, Ito M, Oda K, Shimada T 2001 Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia. J Bone Miner Res 16:23132319.
  • 44
    Taillandier A, Zurutuza L, Muller F, et al 1999 Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Hum Mutat 13:171172.
  • 45
    Caswell AM, Whyte MP, Russell RG 1989 Hypophosphatasia: Pediatric forms. J Pediatr Endocrinol Metab 3:7392.
  • 46
    Hessle L, Johnson KA, Anderson HC, Narisawa S, Sali A, Goding JW, Terkeltaub R, Millan JL 2002 Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization. Proc Natl Acad Sci USA 99:94459449.
  • 47
    Whyte MP, Murphy WA, Fallon MD 1982 Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. Am J Med 72:631641.
  • 48
    Whyte MP, Teitelbaum SL, Murphy WA, Bergfeld MA, Avioli LV 1979 Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature. Medicine (Baltimore) 58:329347.
  • 49
    Whyte MP, Magill HL, Fallon MD, Herrod HG 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 108:8288.
  • 50
    Lee WY, Kang MI, Oh ES, Oh KW, Han JH, Cha BY, Lee KW, Son HY, Kang SK, Kim CC 2002 The role of cytokines in the changes in bone turnover following bone marrow transplantation. Osteoporos Int 13:6268.
  • 51
    Fraser D 1957 Hypophosphatasia. Am J Med 22:730746.
  • 52
    Opshaug O, Maurseth K, Howlid H, Aksnes L, Aarskog D 1982 Vitamin D metabolism in hypophosphatasia. Acta Paediatr 71:517521.
  • 53
    Mumm S, Jones J, Podgornik MN, Finnegan P, Whyte MP 2003 Homozygosity for TNSALP mutation C1348T (Arg 433 Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a black American kindred. (in press)
  • 54
    Joffe I, Katz I, Jacobs T, Stein B, Takizawa M, Liu C, Berlin J, Epstein S 1992 17 beta-estradiol prevents osteopenia in the oophorectomized rat treated with cyclosporin-A. Endocrinology 130:15781586.
  • 55
    Epstein S, Shane E, Bilezikian JP 1995 Organ transplantation and osteoporosis. Curr Opin Rheumatol 7:255261.
  • 56
    Wolfish NM, Heick H 1979 Hyperparathyroidism and infantile hypophosphatasia: Effect of prednisone and vitamin K therapy. J Pediatr 95:10791081.
  • 57
    Beresford JN, Joyner CJ, Devlin C, Triffitt JT 1994 The effects of dexamethasone and 1, 25-dihydroxyvitamin D3 on osteogenic differentiation of human marrow stromal cells in vitro. Arch Oral Biol 39:941947.
  • 58
    Cheng SL, Yang JW, Rifas L, Zhang SF, Avioli LV 1994 Differentiation of human bone marrow osteogenic stromal cells in vitro: Induction of the osteoblast phenotype by dexamethasone. Endocrinology 134:277286.
  • 59
    Deeb AA, Bruce SN, Morris AA, Cheetham TD 2000 Infantile hypophosphatasia: Disappointing results of treatment. Acta Paediatr 89:730733.
  • 60
    Iqbal SJ 1998 Increase in leukocyte alkaline phosphatase in a patient with hypophosphatasia during pregnancy. J Inherit Metab Dis 21:8384.
  • 61
    McComb RB, Bowers GN Jr, Posen S 1979 Alkaline Phosphatase. Plenum Press, New York, NY, USA.
  • 62
    Fedde KN, Lane CC, Whyte MP 1988 Alkaline phosphatase is an ectoenzyme that acts on micromolar concentrations of natural substrates at physiologic pH in human osteosarcoma (SAOS-2) cells. Arch Biochem Biophys 264:400409.
  • 63
    Waymire KG, Mahuren JD, Jaje JM, Guilarte TR, Coburn SP, MacGregor GR 1995 Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. Nat Genet 11:4551.
  • 64
    Narisawa S, Frohlander N, Millan JL 1997 Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia. Dev Dyn 208:432446.
  • 65
    Fedde KN, Blair L, Silverstein J, Coburn SP, Ryan LM, Weinstein RS, Waymire K, Narisawa S, Millan JL, MacGregor GR, Whyte MP 1999 Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia. J Bone Miner Res 14:20152026.
  • 66
    Coburn SP, Reynolds RD, Mahuren JD, Schaltenbrand WE, Wang Y, Ericson KL, Whyte MP, Zubovic YM, Ziegler PJ, Costill DL, Fink WJ, Pearson DR, Pauly TA, Thampy KG, Wortsman J 2002 Elevated plasma 4-pyridoxic acid in renal insufficiency. Am J Clin Nutr 75:5764.
  • 67
    Pereira RF, Halford KW, O'Hara MD, Leeper DB, Sokolov BP, Pollard MD, Bagasra O, Prockop DJ 1995 Cultured adherent cells from marrow can serve as long-lasting precursor cells for bone, cartilage, and lung in irradiated mice. Proc Natl Acad Sci USA 92:48574861.
  • 68
    Pereira RF, O'Hara MD, Laptev AV, Halford KW, Pollard MD, Class R, Simon D, Livezey K, Prockop DJ 1998 Marrow stromal cells as a source of progenitor cells for nonhematopoietic tissues in transgenic mice with a phenotype of osteogenesis imperfecta. Proc Natl Acad Sci USA 95:11421147.
  • 69
    Horwitz EM, Prockop DJ, Fitzpatrick LA, Koo WW, Gordon PL, Neel M, Sussman M, Orchard P, Marx JC, Pyeritz RE, Brenner MK 1999 Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta. Nat Med 5:309313.
  • 70
    Horwitz EM, Prockop DJ, Gordon PL, Koo WW, Fitzpatrick LA, Neel MD, McCarville ME, Orchard PJ, Pyeritz RE, Brenner MK 2001 Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood 97:12271231.
  • 71
    Marini JC 1999 Osteogenesis imperfecta calls for caution. Nat Med 5:466467.
  • 72
    Byers PH, Bonadio JF, Steinmann B 1984 Osteogenesis imperfecta: Update and perspective. Am J Med Genet 17:429435.
  • 73
    Bishop NJ 1999 Osteogenesis imperfecta calls for caution. Nat Med 5:466467.
  • 74
    Smith R 2001 Severe osteogenesis imperfecta: New therapeutic options? BMJ 322:6364.
  • 75
    McSweeney PA, Storb R 1999 Mixed chimerism: Preclinical studies and clinical applications. Biol Blood Marrow Transplant 5:192203.
  • 76
    Koc ON, Day J, Nieder M, Gerson SL, Lazarus HM, Krivit W 2002 Mesenchymal stem cells. Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH). Bone Marrow Transplant 30:215222.