SEARCH

SEARCH BY CITATION

References

  • 1
    Hunt AC, Leys DG. Generalized arterial calcification of infancy. Br Med J. 1957 Feb 16; 1(5015):3856.
  • 2
    Ivemark BI, Lagergren C, Ljundqvist A. Generalized arterial calcification associated with hydramnios in two stillborn infants. Acta Paediatr. 1962;51:10310.
  • 3
    Witzleben CL. Idiopathic infantile arterial calcification—a misnomer?. Am J Cardiol. 1970 Sep; 26(3):3059.
  • 4
    Anderson KA, Burbach JA, Fenton LJ, Jaqua RA, Barlow JF. Idiopathic arterial calcification of infancy in newborn siblings with unusual light and electron microscopic manifestations. Arch Pathol Lab Med. 1985 Sep; 109(9):83842.
  • 5
    Chong CR, Hutchins GM. Idiopathic infantile arterial calcification: the spectrum of clinical presentations. Pediatr Dev Pathol. 2008 Sep-Oct; 11(5):40515.
  • 6
    Rutsch F, Ruf N, Vaingankar S, Toliat MR, Suk A, Hohne W, Schauer G, Lehmann M, Roscioli T, Schnabel D, Epplen JT, Knisely A, Superti-Furga A, McGill J, Filippone M, Sinaiko AR, Vallance H, Hinrichs B, Smith W, Ferre M, Terkeltaub R, Nurnberg P. Mutations in ENPP1 are associated with ‘idiopathic’ infantile arterial calcification. Nat Genet. 2003 Aug; 34(4):37981.
  • 7
    Le Boulanger G, Labrèze C, Croué A, Schurgers LJ, Chassaing N, Wittkampf T, Rutsch F, Martin L. An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. Am J Med Genet A. 2010 Jan; 152A(1):11823.
  • 8
    Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet. 2012 Jan 13; 90(1):2539.
  • 9
    Stefan C, Jansen S, Bollen M. NPP-type ectophosphodiesterases: unity in diversity. Trends Biochem Sci. 2005 Oct; 30(10):54250.
  • 10
    Bollen M, Gijsbers R, Ceulemans H, Stalmans W, Stefan C. Nucleotide pyrophosphatases/phosphodiesterases on the move. Crit Rev Biochem Mol Biol. 2000;35(6):393432.
  • 11
    Fleisch H, Russell RG, Straumann F. Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis. Nature. 1966 Nov 26; 212(5065):9013.
  • 12
    Doherty TM, Fitzpatrick LA, Inoue D, Qiao JH, Fishbein MC, Detrano RC, Shah PK, Rajavashisth TB. Molecular, endocrine, and genetic mechanisms of arterial calcification. Endocr Rev. 2004 Aug; 25(4):62972.
  • 13
    Numakura C, Yamada M, Ariyasu D, Maesaka A, Kobayashi H, Nishimura G, Ikeda M, Hasegawa Y. Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification. J Bone Miner Metab. 2006;24(1):4852.
  • 14
    Glatz AC, Pawel BR, Hsu DT, Weinberg P, Chrisant MR. Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation. Pediatr Transplant. 2006 Mar; 10(2):22533.
  • 15
    Moran JJ. Idiopathic arterial calcification of infancy: a clinicopathologic study. Pathol Annu. 1975;10:393417.
  • 16
    Meradji M, de Villeneuve VH, Huber J, de Bruijn WC, Pearse RG. Idiopathic infantile arterial calcification in siblings: radiologic diagnosis and successful treatment. J Pediatr. 1978 Mar; 92(3):4015.
  • 17
    Bassett CA, Donath A, Macagno F, Preisig R, Fleisch H, Francis MD. Diphosphonates in the treatment of myositis ossificans. Lancet. 1969 Oct 18; 2(7625):845.
  • 18
    Rutsch F, Boyer P, Nitschke Y, Ruf N, Lorenz-Depierieux B, Wittkampf T, Weissen-Plenz G, Fischer RJ, Mughal Z, Gregory JW, Davies JH, Loirat C, Strom TM, Schnabel D, Nurnberg P, Terkeltaub R. Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ Cardiovasc Genet. 2008 Dec; 1(2):13340.
  • 19
    Van der Sluis IM, Boot AM, Vernooij M, Meradji M, Kroon AA. Idiopathic infantile arterial calcification: clinical presentation, therapy and long-term follow-up. Eur J Pediatr. 2006 Sep; 165(9):5903.
  • 20
    Marrott PK, Newcombe KD, Becroft DM, Friedlander DH. Idiopathic infantile arterial calcification with survival to adult life. Pediatr Cardiol. 1984 Apr–Jun; 5(2):11922.
  • 21
    Sholler GF, Yu JS, Bale PM, Hawker RE, Celermajer JM, Kozlowski K. Generalized arterial calcification of infancy: three case reports, including spontaneous regression with long-term survival. J Pediatr. 1984 Aug; 105(2):25760.
  • 22
    Gleason MM, Weber HS, Cyran SE, Baylen BG, Myers JL. Idiopathic infantile arterial calcinosis: intermediate-term survival and cardiac sequelae. Am Heart J. 1994 Mar; 127(3):6915.
  • 23
    Thiaville A, Smets A, Clercx A, Perlmutter N. Idiopathic infantile arterial calcification: a surviving patient with renal artery stenosis. Pediatr Radiol. 1994;24(7):5068.
  • 24
    Van Dyck M, Proesmans W, Van Hollebeke E, Marchal G, Moerman P. Idiopathic infantile arterial calcification with cardiac, renal and central nervous system involvement. Eur J Pediatr. 1989 Jan; 148(4):3747.
  • 25
    Lorenz-Depiereux B, Schnabel D, Tiosano D, Hausler G, Strom TM. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet. 2010 Feb 12; 86(2):26772.
  • 26
    Whyte MP, Kempa LG, McAlister WH, Zhang F, Mumm S, Wenkert D. Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schonberg disease (chloride channel 7 deficiency osteopetrosis) among the sclerosing bone disorders. J Bone Miner Res. 2010 Nov; 25(11):251526.
  • 27
    Ericson KL, Mahuren JD, Zubovic YM, Coburn SP. Use of chlorite to improve HPLC detection of pyridoxal 5′-phosphate. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Sep; 823(2):21820.
  • 28
    Cheung CP, Suhadolnik RJ. Analysis of inorganic pyrophosphate at the picomole level. Anal Biochem. 1977;83(1):613.
  • 29
    Whyte MP, Chines A, Silva DP Jr, Landt Y, Ladenson JH. Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetroses among the sclerosing bone disorders. J Bone Miner Res. 1996 Oct; 11(10):143843.
  • 30
    Whyte MP, Greenberg CR, Salman NJ, Bober MB, McAlister WH, Wenkert D, Van Sickle BJ, Simmons JH, Edgar TS, Bauer ML, Hamdan MA, Bishop N, Lutz RE, McGinn M, Craig S, Moore JN, Taylor JW, Cleveland RH, Cranley WR, Lim R, Thacher TD, Mayhew JE, Downs M, Millán JL, Skrinar AM, Crine P, Landy H. Enzyme replacement for life-threatening hypophosphatasia. N Engl J Med. 2012 Mar; 366(10):90413.
  • 31
    Russell RG. Bisphosphonates: from bench to bedside. Ann N Y Acad Sci. 2006 Apr; 1068:367401.
  • 32
    Fleisch H, Russell RG, Bisaz S, Casey PA, Muhlbauer RC. The influence of pyrophosphate analogues (diphosphonates) on the precipitation and dissolution. Calcif Tissue Res. 1968; Suppl:10-a.
  • 33
    Francis MD, Russell RG, Fleisch H. Diphosphonates inhibit formation of calcium phosphate crystals in vitro and pathological calcification in vivo. Science. 1969 Sep 19; 165(899):12646.
  • 34
    Felix R, Herrmann W, Fleisch H. Stimulation of precipitation of calcium phosphate by matrix vesicles. Biochem J. 1978 Mar 15; 170(3):68191.
  • 35
    Rutsch F, Schauerte P, Kalhoff H, Petrarulo M, August C, Diekmann L. Low levels of urinary inorganic pyrophosphate indicating systemic pyrophosphate deficiency in a boy with idiopathic infantile arterial calcification. Acta Paediatr. 2000 Oct; 89(10):12659.
  • 36
    Rutsch F, Vaingankar S, Johnson K, Goldfine I, Maddux B, Schauerte P, Kalhoff H, Sano K, Boisvert WA, Superti-Furga A, Terkeltaub R. PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. Am J Pathol. 2001 Feb; 158(2):54354.
  • 37
    Russell RG, Smith R. Diphosphonates. Experimental and clinical aspects. J Bone Joint Surg Br. 1973 Feb; 55(1):6686.
  • 38
    Smith R, Russell RG, Woods CG. Myositis ossificans progressiva. Clinical features of eight patients and their response to treatment. J Bone Joint Surg Br. 1976 Feb; 58(1):4857.
  • 39
    Russell RG, Smith R, Preston C, Walton RJ, Woods CG. Diphosphonates in Paget's disease. Lancet. 1974 May 11; 1(7863):8948.
  • 40
    Silverman SL, Hurvitz EA, Nelson VS, Chiodo A. Rachitic syndrome after disodium etidronate therapy in an adolescent. Arch Phys Med Rehabil. 1994 Jan; 75(1):11820.
  • 41
    Thomas T, Lafage MH, Alexandre C. Atypical osteomalacia after 2 year etidronate intermittent cyclic administration in osteoporosis. J Rheumatol. 1995 Nov; 22(11):21835.
  • 42
    Green JR, Muller K, Jaeggi KA. Preclinical pharmacology of CGP 42′446, a new, potent, heterocyclic bisphosphonate compound. J Bone Miner Res. 1994 May; 9(5):74551.
  • 43
    Ramjan KA, Roscioli T, Rutsch F, Sillence D, Munns CF. Generalized arterial calcification of infancy: treatment with bisphosphonates. Nat Clin Pract Endocrinol Metab. 2009 Mar; 5(3):16772.
  • 44
    Dlamini N, Splitt M, Durkan A, Siddiqui A, Padayachee S, Hobbins S, Rutsch F, Wraige E. Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. Am J Med Genet A. 2009 Mar; 149A(3):45660.
  • 45
    Sterbakova G, Vyskocil V, Linhartova K. Bisphosphonates in calcific aortic stenosis: association with slower progression in mild disease—a pilot retrospective study. Cardiology. 2010;117(3):1849.
  • 46
    Stuart G, Wren C, Bain H. Idiopathic infantile arterial calcification in two siblings: failure of treatment with diphosphonate. Br Heart J. 1990 Aug; 64(2):1569.
  • 47
    Rogers MJ, Brown RJ, Hodkin V, Blackburn GM, Russell RG, Watts DJ. Bisphosphonates are incorporated into adenine nucleotides by human aminoacyl-tRNA synthetase enzymes. Biochem Biophys Res Commun. 1996 Jul 25; 224(3):8639.
  • 48
    Rogers MJ, Ji X, Russell RG, Blackburn GM, Williamson MP, Bayless AV, Ebetino FH, Watts DJ. Incorporation of bisphosphonates into adenine nucleotides by amoebae of the cellular slime mould Dictyostelium discoideum. Biochem J. 1994 Oct 1; 303(Pt 1):30311.
  • 49
    Frith JC, Monkkonen GG, Blackburn GM, Russell RG, Rogers MJ. Clodronate and liposome-encapsulated clodronate are metabolized to a toxic ATP analog, adenosine 5′-(β,γ-Dichloromethylene) triphosphate, by mammalian cells in vitro. J Bone Miner Res. 1996;12(9):135867.
  • 50
    Pelorgeas S, Martin JB, Satre M. Cytotoxicity of dichloromethane diphosphonate and of 1-hydroxyethane-1,1-diphosphonate in the amoebae of the slime mould Dictyostelium discoideum. A 31P NMR study. Biochem Pharmacol. 1992 Dec 1; 44(11):215763.
  • 51
    Luckman SP, Hughes DE, Coxon FP, Graham R, Russell G, Rogers MJ. Nitrogen-containing bisphosphonates inhibit the mevalonate pathway and prevent post-translational prenylation of GTP-binding proteins, including Ras. J Bone Miner Res. 1998 Apr; 13(4):5819.
  • 52
    Weiss MJ, Cole DE, Ray K, Whyte MP, Lafferty MA, Mulivor RA, Harris H. A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci U S A. 1988 Oct; 85(20):76669.
  • 53
    Whyte M. Hypophosphatasia. In: Thakker RV, Whyte MP, Eisman J, Igarashi I (eds). Genetics of Bone Biology and Skeletal Diseases. San Diego: Elsevier Academic Press; 2013: pp 33760.
  • 54
    Whyte MP., Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 2010 Mar; 1192:190200.
  • 55
    Whyte MP. Hypophosphatasia: nature's window on alkaline phosphatase function in humans. In: Bilezikian JP, Raisz LG, Martin TJ, editors. Principles of Bone Biology. 3rd ed. San Diego, CA: Academic Press; p. 157398. 2008.
  • 56
    Halverson PB, Ryan LM. Arthritis associated with calcium-containing crystals. In: Primer on the Rheumatic Diseases. Atlanta, GA: Arthritis Foundation Press; p. 300. 2001.
  • 57
    Fortuna R, Anderson HC, Carty R, Sajdera SW., Enzymatic characterization of the chondrocytic alkaline phosphatase isolated from bovine fetal epiphyseal cartilage. Biochim Biophys Acta. 1979 Oct 11; 570 2 291302.
  • 58
    Whyte MP. Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res. 2009 Jun; 24(6):11324.
  • 59
    Johnson K, Goding J, Van Etten D, Sali A, Hu SI, Farley D, Krug H, Hessle L, Millan JL, Terkeltaub R. Linked deficiencies in extracellular PP(i) and osteopontin mediate pathologic calcification associated with defective PC-1 and ANK expression. J Bone Miner Res. 2003 Jun; 18(6):9941004.
  • 60
    Okawa A, Nakamura I, Goto S, Moriya H, Nakamura Y, Ikegawa S. Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. Nat Genet. 1998 Jul; 19(3):2713.
  • 61
    Chuck AJ, Pattrick MG, Hamilton E, Wilson R, Doherty M. Crystal deposition in hypophosphatasia: a reappraisal. Ann Rheum Dis. 1989 Jul; 48(7):5716.
  • 62
    Saigal G, Azouz EM. The spectrum of radiologic findings in idiopathic arterial calcification of infancy: pictorial essay. Can Assoc Radiol J. 2004 Apr; 55(2):1027.
  • 63
    Vera J, Lucaya J, Garcia Conesa JA, Aso C, Balaguer A. Idiopathic infantile arterial calcification: unusual features. Pediatr Radiol. 1990;20(8):5857.
  • 64
    Fleisch H. Bisphosphonates in Bone Disease: From the Laboratory to the Patient. 2nd ed. New York: The Parthenon Publishing Group; 1995. p. 176.
  • 65
    Watanabe H, Yamada S, Anayama S, Sato E, Maekawa S, Sugiyama H, Nakajima I., Pseudogout attack induced during etidronate disodium therapy. Mod Rheumatol. 2006;16(2):1179.
  • 66
    Tolar J, Teitelbaum SL, Orchard PJ. Osteopetrosis. N Engl J Med. 2004 Dec 30; 351(27):283949.
  • 67
    Whyte MP, Wenkert D, Clements KL, McAlister WH, Mumm S. Bisphosphonate-induced osteopetrosis. N Engl J Med. 2003 Jul 31; 349(5):45763.
  • 68
    Key LL Jr, Reis WL. Osteopetrosis. In: Bilezikian JP, Raisz LG, Martin TJ, editors. Principles of Bone Biology. 3rd ed. San Diego, CA: Academic Press; p. 156172. 2008.
  • 69
    Whyte MP. Clinical practice., Paget's disease of bone. N Engl J Med. 2006 Aug 10; 355 6 593600.
  • 70
    Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet. 2010 Feb 12; 86(2):2738.
  • 71
    Whyte MP, Mumm S, Deal C. Adult hypophosphatasia treated with teriparatide. J Clin Endocrinol Metab. 2007 Apr; 92(4):12038.
  • 72
    Posen S, Cornish C, Kleerekoper M. Alkaline phosphatase and metabolic bone disorders. In: Avioli LV, Krane SM, editors. Metabolic Bone Disease. Vol. 1 San Francisco: Academic Press; 1977. p. 160.
  • 73
    Kruse K, Kracht U. Evaluation of serum osteocalcin as an index of altered bone metabolism. Eur J Pediatr. 1986;145(1–2):2733.