-
1
-
-
84884042051
-
-
Online Mendelian Inheritance in Man, OMIM®. Baltimore, MD: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University; July 1, 2011. World Wide Web URL: <>.
-
Online Mendelian Inheritance in Man, OMIM®. Baltimore, MD: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University; July 1, 2011. World Wide Web URL: <>. http://omim.org/.
-
-
-
-
2
-
-
80053218301
-
Hypophosphatasia
-
Elsevier (Academic Press), San Diego, CA, F.H. Glorieux, H. Jueppner, J. Pettifor (Eds.)
-
Whyte MP Hypophosphatasia. Pediatric bone: biology & diseases 2012, 771-794. Elsevier (Academic Press), San Diego, CA. 3rd ed. F.H. Glorieux, H. Jueppner, J. Pettifor (Eds.).
-
(2012)
Pediatric bone: biology & diseases
, pp. 771-794
-
-
Whyte, M.P.1
-
3
-
-
84882522447
-
Hypophosphatasia: nature's window on alkaline phosphatase function in humans
-
Academic Press, San Diego, J.P. Bilezikian, L.G. Raisz, T.J. Martin (Eds.)
-
Whyte MP 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.).
-
(2008)
Principles of bone biology
, pp. 1573-1598
-
-
Whyte, M.P.1
-
6
-
-
0023955534
-
Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34
-
Smith M, Weiss MJ, Griffin CA, Murray JC, Buetow KH, Emanuel BS, et al. Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34. Genomics 1988, 2:139-143.
-
(1988)
Genomics
, vol.2
, pp. 139-143
-
-
Smith, M.1
Weiss, M.J.2
Griffin, C.A.3
Murray, J.C.4
Buetow, K.H.5
Emanuel, B.S.6
-
7
-
-
0023555528
-
Human placental and intestinal alkaline phosphatase genes map to 2q34-q37
-
Griffin CA, Smith M, Henthorn PS, Harris H, Weiss MJ, Raducha M, et al. Human placental and intestinal alkaline phosphatase genes map to 2q34-q37. Am J Hum Genet 1987, 41:1025-1034.
-
(1987)
Am J Hum Genet
, vol.41
, pp. 1025-1034
-
-
Griffin, C.A.1
Smith, M.2
Henthorn, P.S.3
Harris, H.4
Weiss, M.J.5
Raducha, M.6
-
8
-
-
0141830812
-
Cloning and sequencing of human intestinal alkaline phosphatase cDNA
-
Berger J, Garattini E, Hua JC, Udenfriend S Cloning and sequencing of human intestinal alkaline phosphatase cDNA. Proc Natl Acad Sci USA 1987, 84:695-698.
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 695-698
-
-
Berger, J.1
Garattini, E.2
Hua, J.C.3
Udenfriend, S.4
-
9
-
-
0003326347
-
Nucleotide and amino acid sequences of human intestinal alkaline phosphatase: close homology to placental alkaline phosphatase
-
Henthorn PS, Raducha M, Edwards YH, Weiss MJ, Slaughter C, Lafferty MA, 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.
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 1234-1238
-
-
Henthorn, P.S.1
Raducha, M.2
Edwards, Y.H.3
Weiss, M.J.4
Slaughter, C.5
Lafferty, M.A.6
-
10
-
-
0023696449
-
Structure of the human liver/bone/kidney alkaline phosphatase gene
-
Weiss MJ, Ray K, Henthorn PS, Lamb B, Kadesch T, Harris H Structure of the human liver/bone/kidney alkaline phosphatase gene. J Biol Chem 1988, 263:12002-12010.
-
(1988)
J Biol Chem
, vol.263
, pp. 12002-12010
-
-
Weiss, M.J.1
Ray, K.2
Henthorn, P.S.3
Lamb, B.4
Kadesch, T.5
Harris, H.6
-
11
-
-
0025321338
-
Analysis of the human liver/bone/kidney alkaline phosphatase promoter in vivo and in vitro
-
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.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 957-961
-
-
Kiledjian, M.1
Kadesch, T.2
-
12
-
-
0031036060
-
Human tissue non-specific alkaline phosphatases: sugar-moiety-induced enzymic and antigenic modulations and genetic aspects
-
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(Pt 2):297-303.
-
(1997)
Biochem J
, vol.321
, Issue.PT 2
, pp. 297-303
-
-
Nosjean, O.1
Koyama, I.2
Goseki, M.3
Roux, B.4
Komoda, T.5
-
13
-
-
0027062860
-
Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia
-
Henthorn PS, Whyte MP Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia. Clin Chem 1992, 38:2501-2505.
-
(1992)
Clin Chem
, vol.38
, pp. 2501-2505
-
-
Henthorn, P.S.1
Whyte, M.P.2
-
14
-
-
0025777694
-
Reaction mechanism of alkaline phosphatase based on crystal structures. Two-metal ion catalysis
-
Kim EE, Wyckoff HW Reaction mechanism of alkaline phosphatase based on crystal structures. Two-metal ion catalysis. J Molec Biol 1991, 218:449-464.
-
(1991)
J Molec Biol
, vol.218
, pp. 449-464
-
-
Kim, E.E.1
Wyckoff, H.W.2
-
15
-
-
0023156045
-
Tetrameric alkaline phosphatase from human liver is converted to dimers by phosphatidylinositol phospholipase C
-
Hawrylak K, Stinson RA Tetrameric alkaline phosphatase from human liver is converted to dimers by phosphatidylinositol phospholipase C. FEBS Lett 1987, 212:289-291.
-
(1987)
FEBS Lett
, vol.212
, pp. 289-291
-
-
Hawrylak, K.1
Stinson, R.A.2
-
16
-
-
0026343175
-
Alkaline phosphatase dissolves calcium pyrophosphate dihydrate crystals
-
Xu Y, Cruz TF, Pritzker KP Alkaline phosphatase dissolves calcium pyrophosphate dihydrate crystals. J Rheumatol 1991, 18:1606-1610.
-
(1991)
J Rheumatol
, vol.18
, pp. 1606-1610
-
-
Xu, Y.1
Cruz, T.F.2
Pritzker, K.P.3
-
17
-
-
0028875240
-
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
-
Farley JR 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.
-
(1995)
Calcif Tissue Int
, vol.57
, pp. 371-378
-
-
Farley, J.R.1
-
18
-
-
77954128788
-
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: five new patients with Mabry syndrome
-
Thompson MD, Nezarati MM, Gillessen-Kaesbach G, Meinecke P, Mendoza-Londono R, Mornet E, et al. Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: five new patients with Mabry syndrome. Am J Med Genet A 2010, 152A:1661-1669.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 1661-1669
-
-
Thompson, M.D.1
Nezarati, M.M.2
Gillessen-Kaesbach, G.3
Meinecke, P.4
Mendoza-Londono, R.5
Mornet, E.6
-
19
-
-
0021504893
-
Hepatic clearance of rat plasma intestinal alkaline phosphatase
-
Young GP, Rose IS, Cropper S, Seetharam S, Alpers DH Hepatic clearance of rat plasma intestinal alkaline phosphatase. Am J Physiol 1984, 247:G419-G426.
-
(1984)
Am J Physiol
, vol.247
-
-
Young, G.P.1
Rose, I.S.2
Cropper, S.3
Seetharam, S.4
Alpers, D.H.5
-
20
-
-
0019184883
-
Hypophosphatasia (adult form): quantitation of serum alkaline phosphatase isoenzyme activity in a large kindred
-
Millan JL, Whyte MP, Avioli LV, Fishman WH Hypophosphatasia (adult form): quantitation of serum alkaline phosphatase isoenzyme activity in a large kindred. Clin Chem 1980, 26:840-845.
-
(1980)
Clin Chem
, vol.26
, pp. 840-845
-
-
Millan, J.L.1
Whyte, M.P.2
Avioli, L.V.3
Fishman, W.H.4
-
21
-
-
0013959611
-
Influence of diet on the "intestinal" component of serum alkaline phosphatase in people of different ABO blood groups and secretor status
-
Langman MJ, Leuthold E, Robson EB, Harris J, Luffman JE, 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.
-
(1966)
Nature
, vol.212
, pp. 41-43
-
-
Langman, M.J.1
Leuthold, E.2
Robson, E.B.3
Harris, J.4
Luffman, J.E.5
Harris, H.6
-
22
-
-
0030696783
-
Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals
-
Anderson HC, Hsu HH, Morris DC, Fedde KN, Whyte MP Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals. Am J Pathol 1997, 151:1555-1561.
-
(1997)
Am J Pathol
, vol.151
, pp. 1555-1561
-
-
Anderson, H.C.1
Hsu, H.H.2
Morris, D.C.3
Fedde, K.N.4
Whyte, M.P.5
-
23
-
-
0022381584
-
Histologic and ultrastructural studies on the mineralization process in hypophosphatasia
-
Ornoy A, Adomian GE, Rimoin DL Histologic and ultrastructural studies on the mineralization process in hypophosphatasia. Am J Med Genet 1985, 22:743-758.
-
(1985)
Am J Med Genet
, vol.22
, pp. 743-758
-
-
Ornoy, A.1
Adomian, G.E.2
Rimoin, D.L.3
-
24
-
-
0000985304
-
The possible significance of hexosephosphoric esters in ossification
-
Robison R The possible significance of hexosephosphoric esters in ossification. J Biol Chem 1923, 17:286-293.
-
(1923)
J Biol Chem
, vol.17
, pp. 286-293
-
-
Robison, R.1
-
25
-
-
0006609785
-
The possible significance of hexosephosphoric esters in ossification: Part II. The phosphoric esterase of ossifying cartilage
-
Robison R, Soames KM The possible significance of hexosephosphoric esters in ossification: Part II. The phosphoric esterase of ossifying cartilage. Biochem J. 1924, 18:740-754.
-
(1924)
Biochem J.
, vol.18
, pp. 740-754
-
-
Robison, R.1
Soames, K.M.2
-
27
-
-
0022967036
-
Biochemical and immunohistochemical evidence that in cartilage an alkaline phosphatase is a Ca2+-binding glycoprotein
-
de Bernard B, Bianco P, Bonucci E, Costantini M, Lunazzi GC, Martinuzzi P, et al. Biochemical and immunohistochemical evidence that in cartilage an alkaline phosphatase is a Ca2+-binding glycoprotein. J Cell Biol 1986, 103:1615-1623.
-
(1986)
J Cell Biol
, vol.103
, pp. 1615-1623
-
-
de Bernard, B.1
Bianco, P.2
Bonucci, E.3
Costantini, M.4
Lunazzi, G.C.5
Martinuzzi, P.6
-
28
-
-
0021808271
-
Phosphotyrosyl-specific protein phosphatase activity of a bovine skeletal acid phosphatase isoenzyme. Comparison with the phosphotyrosyl protein phosphatase activity of skeletal alkaline phosphatase
-
Lau KH, Farley JR, Baylink DJ 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.
-
(1985)
J Biol Chem
, vol.260
, pp. 4653-4660
-
-
Lau, K.H.1
Farley, J.R.2
Baylink, D.J.3
-
29
-
-
0016755849
-
Studies on matrix vesicles isolated from chick epiphyseal cartilage. Association of pyrophosphatase and ATPase activities with alkaline phosphatase
-
Majeska RJ, Wuthier RE 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.
-
(1975)
Biochim Biophys Acta
, vol.391
, pp. 51-60
-
-
Majeska, R.J.1
Wuthier, R.E.2
-
30
-
-
0014029045
-
Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis
-
Fleisch H, Russell RG, Straumann F Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis. Nature 1966, 212:901-903.
-
(1966)
Nature
, vol.212
, pp. 901-903
-
-
Fleisch, H.1
Russell, R.G.2
Straumann, F.3
-
31
-
-
0014045713
-
Association of inorganic-pyrophosphatase activity with human alkaline-phosphatase preparations
-
Moss DW, Eaton RH, Smith JK, Whitby LG Association of inorganic-pyrophosphatase activity with human alkaline-phosphatase preparations. Biochem J. 1967, 102:53-57.
-
(1967)
Biochem J.
, vol.102
, pp. 53-57
-
-
Moss, D.W.1
Eaton, R.H.2
Smith, J.K.3
Whitby, L.G.4
-
32
-
-
0015057271
-
Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone
-
Russell RG, Bisaz S, Donath A, Morgan DB, Fleisch H Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone. J Clin Invest 1971, 50:961-969.
-
(1971)
J Clin Invest
, vol.50
, pp. 961-969
-
-
Russell, R.G.1
Bisaz, S.2
Donath, A.3
Morgan, D.B.4
Fleisch, H.5
-
33
-
-
0025856050
-
Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: clinical and laboratory aspects
-
Caswell AM, Whyte MP, Russell RG Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: clinical and laboratory aspects. Crit Rev Clin Lab Sci 1991, 28:175-232.
-
(1991)
Crit Rev Clin Lab Sci
, vol.28
, pp. 175-232
-
-
Caswell, A.M.1
Whyte, M.P.2
Russell, R.G.3
-
34
-
-
0000034593
-
Hypophosphatasia: a new developmental anomaly
-
Rathbun Hypophosphatasia: a new developmental anomaly. Am J Dis Child. 1948, 75:822-831.
-
(1948)
Am J Dis Child.
, vol.75
, pp. 822-831
-
-
Rathbun1
-
35
-
-
0034867464
-
Hypophosphatasia: molecular diagnosis of Rathbun's original case
-
Mumm S, Jones J, Finnegan P, Whyte MP Hypophosphatasia: molecular diagnosis of Rathbun's original case. J Bone Miner Res 2001, 16:1724-1727.
-
(2001)
J Bone Miner Res
, vol.16
, pp. 1724-1727
-
-
Mumm, S.1
Jones, J.2
Finnegan, P.3
Whyte, M.P.4
-
36
-
-
70449163949
-
Hypophosphatasia
-
Currarino G, Neuhauser EB, Reyersbach GC, Sobel EH Hypophosphatasia. Am J Roentgenol Radium Ther Nucl Med 1957, 78:392-419.
-
(1957)
Am J Roentgenol Radium Ther Nucl Med
, vol.78
, pp. 392-419
-
-
Currarino, G.1
Neuhauser, E.B.2
Reyersbach, G.C.3
Sobel, E.H.4
-
37
-
-
0001206301
-
Hypophosphatasia
-
Fraser D Hypophosphatasia. Am J Med. 1957, 22:730-746.
-
(1957)
Am J Med.
, vol.22
, pp. 730-746
-
-
Fraser, D.1
-
38
-
-
0346850295
-
Rickets, deficiency of alkaline phosphatase activity and premature loss of teeth in childhood
-
Sobel EH, Clark LC, Fox RP, Robinow M Rickets, deficiency of alkaline phosphatase activity and premature loss of teeth in childhood. Pediatrics 1953, 11:309-322.
-
(1953)
Pediatrics
, vol.11
, pp. 309-322
-
-
Sobel, E.H.1
Clark, L.C.2
Fox, R.P.3
Robinow, M.4
-
39
-
-
20444502785
-
Metabolic abnormalities in hypophosphatasia
-
Fraser D, Yendt ER, Christie FH Metabolic abnormalities in hypophosphatasia. Lancet 1955, 268:286.
-
(1955)
Lancet
, vol.268
, pp. 286
-
-
Fraser, D.1
Yendt, E.R.2
Christie, F.H.3
-
40
-
-
0007387198
-
The excretion of phosphoethanolamine and hypophosphatasia
-
McCance RA, Morrison AB, Dent CE The excretion of phosphoethanolamine and hypophosphatasia. Lancet 1955, 268:131.
-
(1955)
Lancet
, vol.268
, pp. 131
-
-
McCance, R.A.1
Morrison, A.B.2
Dent, C.E.3
-
41
-
-
49749205640
-
Excretion of inorganic pyrophosphate in hypophosphatasia
-
Russell RG Excretion of inorganic pyrophosphate in hypophosphatasia. Lancet 1965, 10:461-464.
-
(1965)
Lancet
, vol.10
, pp. 461-464
-
-
Russell, R.G.1
-
43
-
-
0011322884
-
A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia
-
Weiss MJ, Cole DE, Ray K, Whyte MP, Lafferty MA, Mulivor RA, et al. A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Nat Acad Sci USA 1988, 85:7666-7669.
-
(1988)
Proc Nat Acad Sci USA
, vol.85
, pp. 7666-7669
-
-
Weiss, M.J.1
Cole, D.E.2
Ray, K.3
Whyte, M.P.4
Lafferty, M.A.5
Mulivor, R.A.6
-
44
-
-
84863393533
-
Enzyme replacement therapy in life-threatening hypophosphatasia
-
Whyte MP, Greenberg CR, Salman NJ, Bober MB, McAlister WH, Van Sickle B, et al. Enzyme replacement therapy in life-threatening hypophosphatasia. New Engl J Med 2012, 366:904-913.
-
(2012)
New Engl J Med
, vol.366
, pp. 904-913
-
-
Whyte, M.P.1
Greenberg, C.R.2
Salman, N.J.3
Bober, M.B.4
McAlister, W.H.5
Van Sickle, B.6
-
45
-
-
0027337157
-
A homoallelic Gly317→Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites
-
Greenberg CR, Taylor CL, Haworth JC, Seargeant LE, Philipps S, Triggs-Raine B, et al. A homoallelic Gly317→Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. Genomics 1993, 17:215-217.
-
(1993)
Genomics
, vol.17
, pp. 215-217
-
-
Greenberg, C.R.1
Taylor, C.L.2
Haworth, J.C.3
Seargeant, L.E.4
Philipps, S.5
Triggs-Raine, B.6
-
46
-
-
79954584814
-
A molecular-based estimation of the prevalence of hypophosphatasia in the European population
-
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, 75:439-445.
-
(2011)
Ann Hum Genet
, vol.75
, pp. 439-445
-
-
Mornet, E.1
Yvard, A.2
Taillandier, A.3
Fauvert, D.4
Simon-Bouy, B.5
-
47
-
-
33745053865
-
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
-
Whyte MP, 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.
-
(2006)
J Pediatr
, vol.148
, pp. 753-758
-
-
Whyte, M.P.1
Essmyer, K.2
Geimer, M.3
Mumm, S.4
-
48
-
-
0021711674
-
L'hypophosphatasie affection polymorphe de fréquence peut-ětre sous estimée
-
Taillard F, Desbois JC, Delepine N, Gretillat F, Allaneau C, Herrault A L'hypophosphatasie affection polymorphe de fréquence peut-ětre sous estimée. Infantile 1984, 91:559-576.
-
(1984)
Infantile
, vol.91
, pp. 559-576
-
-
Taillard, F.1
Desbois, J.C.2
Delepine, N.3
Gretillat, F.4
Allaneau, C.5
Herrault, A.6
-
49
-
-
0018718890
-
Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature
-
Whyte MP, Teitelbaum SL, Murphy WA, Bergfeld MA, Avioli LV Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature. Medicine (Baltimore) 1979, 58:329-347.
-
(1979)
Medicine (Baltimore)
, vol.58
, pp. 329-347
-
-
Whyte, M.P.1
Teitelbaum, S.L.2
Murphy, W.A.3
Bergfeld, M.A.4
Avioli, L.V.5
-
50
-
-
0019940289
-
Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred
-
Whyte MP, Murphy WA, Fallon MD Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. Am J Med 1982, 72:631-641.
-
(1982)
Am J Med
, vol.72
, pp. 631-641
-
-
Whyte, M.P.1
Murphy, W.A.2
Fallon, M.D.3
-
51
-
-
0015465120
-
Congenital hypophosphatasia. Report on two cases with special reference to phosphoethanolamine excretion
-
Terheggen HG, 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.
-
(1972)
Mono Hum Genet
, vol.6
, pp. 188
-
-
Terheggen, H.G.1
Schildberg, C.2
Schurer, W.3
Van Sande, M.4
Butzler, O.5
-
52
-
-
0025265856
-
Infantile hypophosphatasia: autosomal recessive transmission to two related sibships
-
Moore CA, Ward JC, Rivas ML, Magill HL, Whyte MP Infantile hypophosphatasia: autosomal recessive transmission to two related sibships. Am J Med Genet 1990, 36:15-22.
-
(1990)
Am J Med Genet
, vol.36
, pp. 15-22
-
-
Moore, C.A.1
Ward, J.C.2
Rivas, M.L.3
Magill, H.L.4
Whyte, M.P.5
-
54
-
-
80053176676
-
Hypophosphatasia: non-lethal disease despite skeletal presentation in utero (17 new cases and literature review)
-
Wenkert D, McAlister WH, Coburn SP, Zerega JA, Ryan LM, Ericson KL, et al. Hypophosphatasia: non-lethal disease despite skeletal presentation in utero (17 new cases and literature review). J Bone Miner Res 2011, 26:2389-2398.
-
(2011)
J Bone Miner Res
, vol.26
, pp. 2389-2398
-
-
Wenkert, D.1
McAlister, W.H.2
Coburn, S.P.3
Zerega, J.A.4
Ryan, L.M.5
Ericson, K.L.6
-
55
-
-
34248573295
-
Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene
-
Baumgartner-Sigl S, Haberlandt E, Mumm S, Scholl-Burgi S, Sergi C, Ryan L, et al. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. Bone 2007, 40:1655-1661.
-
(2007)
Bone
, vol.40
, pp. 1655-1661
-
-
Baumgartner-Sigl, S.1
Haberlandt, E.2
Mumm, S.3
Scholl-Burgi, S.4
Sergi, C.5
Ryan, L.6
-
56
-
-
0017058674
-
Hypophosphatasia. Review of 24 cases
-
Kozlowski K, Sutcliffe J, Barylak A, Harrington G, Kemperdick H, Nolte K, et al. Hypophosphatasia. Review of 24 cases. Pediatr Radiol 1976, 5:103-117.
-
(1976)
Pediatr Radiol
, vol.5
, pp. 103-117
-
-
Kozlowski, K.1
Sutcliffe, J.2
Barylak, A.3
Harrington, G.4
Kemperdick, H.5
Nolte, K.6
-
57
-
-
0026053143
-
Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings
-
Shohat M, Rimoin DL, Gruber HE, Lachman RS Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings. Pediatr Radiol 1991, 21:421-427.
-
(1991)
Pediatr Radiol
, vol.21
, pp. 421-427
-
-
Shohat, M.1
Rimoin, D.L.2
Gruber, H.E.3
Lachman, R.S.4
-
58
-
-
7344231904
-
"Spur-limbed" dwarfism identified as hypophosphatasia [letter]
-
Whyte MP "Spur-limbed" dwarfism identified as hypophosphatasia [letter]. Dysmorphol Clin Genet 1988, 2:126-127.
-
(1988)
Dysmorphol Clin Genet
, vol.2
, pp. 126-127
-
-
Whyte, M.P.1
-
60
-
-
10544254690
-
Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia
-
Ozono K, Yamagata M, Michigami T, Nakajima S, Sakai N, Cai G, et al. Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. J Clin Endocrinol Metab 1996, 81:4458-4461.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 4458-4461
-
-
Ozono, K.1
Yamagata, M.2
Michigami, T.3
Nakajima, S.4
Sakai, N.5
Cai, G.6
-
61
-
-
58049164921
-
Neurosurgical aspects of childhood hypophosphatasia
-
Collmann H, Mornet E, Gattenlohner S, Beck C, Girschick H Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst 2009, 25:217-223.
-
(2009)
Childs Nerv Syst
, vol.25
, pp. 217-223
-
-
Collmann, H.1
Mornet, E.2
Gattenlohner, S.3
Beck, C.4
Girschick, H.5
-
62
-
-
0019965925
-
Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease
-
Whyte MP, Valdes R, Ryan LM, McAlister WH Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease. J Pediatr 1982, 101:379-386.
-
(1982)
J Pediatr
, vol.101
, pp. 379-386
-
-
Whyte, M.P.1
Valdes, R.2
Ryan, L.M.3
McAlister, W.H.4
-
63
-
-
0018358397
-
Skull scintigraphy in infantile hypophosphatasia
-
Sty JR, Boedecker RA, Babbitt DP Skull scintigraphy in infantile hypophosphatasia. J Nucl Med 1979, 20:305-306.
-
(1979)
J Nucl Med
, vol.20
, pp. 305-306
-
-
Sty, J.R.1
Boedecker, R.A.2
Babbitt, D.P.3
-
64
-
-
0021324071
-
Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms
-
Fallon MD, Teitelbaum SL, Weinstein RS, Goldfischer S, Brown DM, Whyte MP Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. Medicine (Baltimore) 1984, 63:12-24.
-
(1984)
Medicine (Baltimore)
, vol.63
, pp. 12-24
-
-
Fallon, M.D.1
Teitelbaum, S.L.2
Weinstein, R.S.3
Goldfischer, S.4
Brown, D.M.5
Whyte, M.P.6
-
65
-
-
84989558308
-
Retrospective study of children with hypophosphatasia with reference to dental changes
-
Lundgren T, Westphal O, Bolme P, Modeer T, Noren JG Retrospective study of children with hypophosphatasia with reference to dental changes. Scand J Dent Res 1991, 99:357-364.
-
(1991)
Scand J Dent Res
, vol.99
, pp. 357-364
-
-
Lundgren, T.1
Westphal, O.2
Bolme, P.3
Modeer, T.4
Noren, J.G.5
-
66
-
-
0027685921
-
Hypophosphatasia: dental aspects and mode of inheritance
-
Chapple IL Hypophosphatasia: dental aspects and mode of inheritance. J Clin Periodontol 1993, 20:615-622.
-
(1993)
J Clin Periodontol
, vol.20
, pp. 615-622
-
-
Chapple, I.L.1
-
67
-
-
68949100637
-
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia
-
Whyte MP, Wenkert D, McAlister WH, Mughal MZ, Freemont AJ, Whitehouse R, et al. Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. J Bone Miner Res 2009, 24:1493-1505.
-
(2009)
J Bone Miner Res
, vol.24
, pp. 1493-1505
-
-
Whyte, M.P.1
Wenkert, D.2
McAlister, W.H.3
Mughal, M.Z.4
Freemont, A.J.5
Whitehouse, R.6
-
68
-
-
0025189903
-
Myopathy with hypophosphatasia
-
Seshia SS, Derbyshire G, Haworth JC, Hoogstraten J Myopathy with hypophosphatasia. Arc Dis Child 1990, 65:130-131.
-
(1990)
Arc Dis Child
, vol.65
, pp. 130-131
-
-
Seshia, S.S.1
Derbyshire, G.2
Haworth, J.C.3
Hoogstraten, J.4
-
69
-
-
0031133524
-
Absence of adult dental anomalies in familial hypophosphatasia
-
Lepe X, Rothwell BR, Banich S, Page RC Absence of adult dental anomalies in familial hypophosphatasia. J Periodontal Res 1997, 32:375-380.
-
(1997)
J Periodontal Res
, vol.32
, pp. 375-380
-
-
Lepe, X.1
Rothwell, B.R.2
Banich, S.3
Page, R.C.4
-
70
-
-
33847748635
-
Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood
-
Khandwala HM, Mumm S, Whyte MP Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood. Endocr Pract 2006, 12:676-681.
-
(2006)
Endocr Pract
, vol.12
, pp. 676-681
-
-
Khandwala, H.M.1
Mumm, S.2
Whyte, M.P.3
-
71
-
-
0022968773
-
Management of femoral fractures and pseudofractures in adult hypophosphatasia
-
Coe JD, Murphy WA, Whyte MP Management of femoral fractures and pseudofractures in adult hypophosphatasia. J Bone Joint Surg (Am) 1986, 68:981-990.
-
(1986)
J Bone Joint Surg (Am)
, vol.68
, pp. 981-990
-
-
Coe, J.D.1
Murphy, W.A.2
Whyte, M.P.3
-
72
-
-
66349093964
-
Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia
-
Whyte MP Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res. 2009, 24:1132-1134.
-
(2009)
J Bone Miner Res.
, vol.24
, pp. 1132-1134
-
-
Whyte, M.P.1
-
73
-
-
34147099203
-
Adult hypophosphatasia treated with teriparatide
-
Whyte MP, Mumm S, Deal C Adult hypophosphatasia treated with teriparatide. J Clin Endocrinol Metab 2007, 92:1203-1208.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 1203-1208
-
-
Whyte, M.P.1
Mumm, S.2
Deal, C.3
-
74
-
-
0024399593
-
Crystal deposition in hypophosphatasia: a reappraisal
-
Chuck AJ, Pattrick MG, Hamilton E, Wilson R, Doherty M Crystal deposition in hypophosphatasia: a reappraisal. Ann Rheum Dis 1989, 48:571-576.
-
(1989)
Ann Rheum Dis
, vol.48
, pp. 571-576
-
-
Chuck, A.J.1
Pattrick, M.G.2
Hamilton, E.3
Wilson, R.4
Doherty, M.5
-
75
-
-
0025036452
-
Recurrent calcific periarthritis, erosive osteoarthritis and hypophosphatasia: a family study
-
Lassere MN, Jones JG Recurrent calcific periarthritis, erosive osteoarthritis and hypophosphatasia: a family study. J Rheumatol 1990, 17:1244-1248.
-
(1990)
J Rheumatol
, vol.17
, pp. 1244-1248
-
-
Lassere, M.N.1
Jones, J.G.2
-
77
-
-
2442549408
-
Pseudohypophosphatasia: Clinical, radiographic, and biochemical characterization of a second case (abstract)
-
A-68
-
Moore CA, Wappner RS, Coburn SP, Mulivor RA, Fedde KN, Whyte MP Pseudohypophosphatasia: Clinical, radiographic, and biochemical characterization of a second case (abstract). Am J Human Genet 1990, 47. A-68.
-
(1990)
Am J Human Genet
, vol.47
-
-
Moore, C.A.1
Wappner, R.S.2
Coburn, S.P.3
Mulivor, R.A.4
Fedde, K.N.5
Whyte, M.P.6
-
78
-
-
0022570453
-
Increased serum pyridoxal-5'-phosphate in pseudohypophosphatasia
-
Cole DE, Salisbury SR, Stinson RA, Coburn SP, Ryan LM, Whyte MP Increased serum pyridoxal-5'-phosphate in pseudohypophosphatasia. N Engl J Med 1986, 314:992-993.
-
(1986)
N Engl J Med
, vol.314
, pp. 992-993
-
-
Cole, D.E.1
Salisbury, S.R.2
Stinson, R.A.3
Coburn, S.P.4
Ryan, L.M.5
Whyte, M.P.6
-
79
-
-
0025144554
-
Pseudohypophosphatasia: aberrant localization and substrate specificity of alkaline phosphatase in cultured skin fibroblasts
-
Fedde KN, Cole DE, Whyte MP Pseudohypophosphatasia: aberrant localization and substrate specificity of alkaline phosphatase in cultured skin fibroblasts. Am J Human Genet 1990, 47:776-783.
-
(1990)
Am J Human Genet
, vol.47
, pp. 776-783
-
-
Fedde, K.N.1
Cole, D.E.2
Whyte, M.P.3
-
80
-
-
0022780645
-
Childhood pseudohypophosphatasia. Clinical and laboratory study of two cases
-
Heaton BW, McClendon JL Childhood pseudohypophosphatasia. Clinical and laboratory study of two cases. Tex Dent J 1986, 103:4-8.
-
(1986)
Tex Dent J
, vol.103
, pp. 4-8
-
-
Heaton, B.W.1
McClendon, J.L.2
-
81
-
-
0016176742
-
Hypophosphatasia: screening and family investigation
-
Rubecz I, Mehes K, Klujber L, Bozzay L, Weisenbach J, Fenyvesi J Hypophosphatasia: screening and family investigation. Clin Genet 1974, 6:155-159.
-
(1974)
Clin Genet
, vol.6
, pp. 155-159
-
-
Rubecz, I.1
Mehes, K.2
Klujber, L.3
Bozzay, L.4
Weisenbach, J.5
Fenyvesi, J.6
-
82
-
-
0026228387
-
Perinatal ultrasound casebook. Antenatal findings in congenital hypophosphatasia
-
Kleinman G, Uri M, Hull S, Keene C Perinatal ultrasound casebook. Antenatal findings in congenital hypophosphatasia. J Perinatol 1991, 11:282-284.
-
(1991)
J Perinatol
, vol.11
, pp. 282-284
-
-
Kleinman, G.1
Uri, M.2
Hull, S.3
Keene, C.4
-
83
-
-
84859907817
-
"Atypical femoral fractures" during bisphosphonate exposure in adult hypophosphatasia.
-
Sutton RAL, Mumm S, Coburn SP, Ericson KL, Whyte MP. "Atypical femoral fractures" during bisphosphonate exposure in adult hypophosphatasia. J Bone Miner Res 2012;27:987-94.
-
(2012)
J Bone Miner Res
, vol.27
-
-
Sutton, R.A.L.1
Mumm, S.2
Coburn, S.P.3
Ericson, K.L.4
Whyte, M.P.5
-
84
-
-
0023690329
-
Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia
-
Royce PM, Blumberg A, Zurbrugg RP, Zimmermann A, Colombo JP, Steinmann B Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia. Eur J Ped 1988, 147:626-631.
-
(1988)
Eur J Ped
, vol.147
, pp. 626-631
-
-
Royce, P.M.1
Blumberg, A.2
Zurbrugg, R.P.3
Zimmermann, A.4
Colombo, J.P.5
Steinmann, B.6
-
85
-
-
75149194339
-
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2
-
El-Gharbawy AH, Peeden JN, Lachman RS, Graham JM, Moore SR, Rimoin DL 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.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 169-174
-
-
El-Gharbawy, A.H.1
Peeden, J.N.2
Lachman, R.S.3
Graham, J.M.4
Moore, S.R.5
Rimoin, D.L.6
-
86
-
-
0020450679
-
Circulating vitamin D metabolite levels in hypophosphatasia
-
Whyte MP, Seino Y Circulating vitamin D metabolite levels in hypophosphatasia. J Clin Endocrinol Metab 1982, 55:178-180.
-
(1982)
J Clin Endocrinol Metab
, vol.55
, pp. 178-180
-
-
Whyte, M.P.1
Seino, Y.2
-
87
-
-
0020026534
-
Vitamin D metabolism in hypophosphatasia
-
Opshaug O, Maurseth K, Howlid H, Aksnes L, Aarskog D Vitamin D metabolism in hypophosphatasia. Acta Paediatr Scand 1982, 71:517-521.
-
(1982)
Acta Paediatr Scand
, vol.71
, pp. 517-521
-
-
Opshaug, O.1
Maurseth, K.2
Howlid, H.3
Aksnes, L.4
Aarskog, D.5
-
88
-
-
0022411235
-
Inorganic pyrophosphates and parathormone in hypophosphatasia. Study of a family
-
Taillard F, Desbois JC, Gueris J, Delepine N, Lacour B, Gretillat F, et al. Inorganic pyrophosphates and parathormone in hypophosphatasia. Study of a family. Biomed Pharmacother 1985, 39:236-241.
-
(1985)
Biomed Pharmacother
, vol.39
, pp. 236-241
-
-
Taillard, F.1
Desbois, J.C.2
Gueris, J.3
Delepine, N.4
Lacour, B.5
Gretillat, F.6
-
89
-
-
84882558039
-
Hyperphosphatemia due to enhanced renal reclamation of phosphate in hypophosphatasia. (abstract)
-
Whyte MP, Rettinger SD Hyperphosphatemia due to enhanced renal reclamation of phosphate in hypophosphatasia. (abstract). J Bone Miner Res 1987, S2.
-
(1987)
J Bone Miner Res
-
-
Whyte, M.P.1
Rettinger, S.D.2
-
90
-
-
68149120891
-
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy
-
Rutsch F, Böyer P, Nitschke Y, Ruf N, Lorenz-Depierieux B, Wittkampf T, 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.
-
(2008)
Circ Cardiovasc Genet
, vol.1
, pp. 133-140
-
-
Rutsch, F.1
Böyer, P.2
Nitschke, Y.3
Ruf, N.4
Lorenz-Depierieux, B.5
Wittkampf, T.6
-
91
-
-
84882908490
-
Low serum alkaline phosphatase level, hypophosphataemia, and aching extremities (letter)
-
Nusynowitz ML Low serum alkaline phosphatase level, hypophosphataemia, and aching extremities (letter). J Am Med Assoc 1979, 242:2800-2801.
-
(1979)
J Am Med Assoc
, vol.242
, pp. 2800-2801
-
-
Nusynowitz, M.L.1
-
92
-
-
84883936711
-
-
Cohn DV, Talmage RV, Mathews JL, editors. Hormonal control of calcium metabolism: proceedings of the seventh international conference on calcium regulating hormones (seventh parathyroid conference), Estes Park, Colorado, USA, September 5-9, 1980, Volume 1980 Amsterdam; Excerpta Medica
-
Juan D, Lambert PW. Vitamin D. Metabolism and phosphorus absorption studies in a case of coexistent vitamin D resistant rickets and hypophosphatasia. In: Cohn DV, Talmage RV, Mathews JL, editors. Hormonal control of calcium metabolism: proceedings of the seventh international conference on calcium regulating hormones (seventh parathyroid conference), Estes Park, Colorado, USA, September 5-9, 1980, Volume 1980 Amsterdam; Excerpta Medica, 1981; 465.
-
(1981)
Metabolism and phosphorus absorption studies in a case of coexistent vitamin D resistant rickets and hypophosphatasia.
-
-
Juan, D.1
Lambert, P.W.2
Vitamin, D.3
-
93
-
-
0022414983
-
Normal circulating acid phosphatase activity in hypophosphatasia
-
Rettinger SD, Whyte MP Normal circulating acid phosphatase activity in hypophosphatasia. J Inherit Metab Dis 1985, 8:161-162.
-
(1985)
J Inherit Metab Dis
, vol.8
, pp. 161-162
-
-
Rettinger, S.D.1
Whyte, M.P.2
-
94
-
-
0032559788
-
Persistently raised serum acid phosphatase activity in a patient with hypophosphatasia: electrophoretic and molecular weight characterisation as type 5
-
Iqbal SJ 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.
-
(1998)
Clin Chim Acta
, vol.271
, pp. 213-220
-
-
Iqbal, S.J.1
-
95
-
-
0017904662
-
A patient with hypophosphatasia and hyperprolinaemia
-
De Vries HR, Duran M, De Bree PK, Wadman SK A patient with hypophosphatasia and hyperprolinaemia. Neth J Med 1978, 21:28-34.
-
(1978)
Neth J Med
, vol.21
, pp. 28-34
-
-
De Vries, H.R.1
Duran, M.2
De Bree, P.K.3
Wadman, S.K.4
-
96
-
-
0017884940
-
The urinary excretion of phosphoethanolamine in diseases other than hypophosphatasia
-
Licata AA, Radfar N, Bartter FC, Bou E The urinary excretion of phosphoethanolamine in diseases other than hypophosphatasia. Am J Med 1978, 64:133-138.
-
(1978)
Am J Med
, vol.64
, pp. 133-138
-
-
Licata, A.A.1
Radfar, N.2
Bartter, F.C.3
Bou, E.4
-
97
-
-
0343083228
-
Role of phosphatases in the regulation of vitamin B-6 metabolism in hypophosphatasia and other disorders.
-
New York; AR Liss
-
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.
-
(1988)
Clinical and physiological applications of vitamin B-6. Proceedings of the third international conference on vitamin B-6.
-
-
Coburn, S.P.1
Whyte, M.P.2
Leklem, J.E.3
Reynolds, R.D.4
-
98
-
-
0025641050
-
Increased plasma pyridoxal-5′-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia
-
Chodirker BN, Coburn SP, Seargeant LE, Whyte MP, Greenberg CR 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.
-
(1990)
J Inherit Metab Dis
, vol.13
, pp. 891-896
-
-
Chodirker, B.N.1
Coburn, S.P.2
Seargeant, L.E.3
Whyte, M.P.4
Greenberg, C.R.5
-
99
-
-
0026079493
-
Raised urinary excretion of inorganic pyrophosphate in asymptomatic members of a hypophosphatasia kindred
-
Macfarlane JD, Poorthuis BJ, Mulivor RA, Caswell AM Raised urinary excretion of inorganic pyrophosphate in asymptomatic members of a hypophosphatasia kindred. Clin Chim Acta 1991, 202:141-148.
-
(1991)
Clin Chim Acta
, vol.202
, pp. 141-148
-
-
Macfarlane, J.D.1
Poorthuis, B.J.2
Mulivor, R.A.3
Caswell, A.M.4
-
100
-
-
84864312849
-
Dual-energy x-ray absorptiometry interpretation: A simple equation for height correction for pre-teenage children
-
Zhang F, Whyte MP, Wenkert D Dual-energy x-ray absorptiometry interpretation: A simple equation for height correction for pre-teenage children. J Clin Densitom 2012, 15:267-274.
-
(2012)
J Clin Densitom
, vol.15
, pp. 267-274
-
-
Zhang, F.1
Whyte, M.P.2
Wenkert, D.3
-
101
-
-
80755136582
-
Skeletal mineralization defects in adult hypophosphatasia-a clinical and histological analysis
-
Barvencik F, Beil FT, Gebauer M, Busse B, Koehne T, Seitz S, et al. Skeletal mineralization defects in adult hypophosphatasia-a clinical and histological analysis. Osteoporos Int 2011, 22:2667-2675.
-
(2011)
Osteoporos Int
, vol.22
, pp. 2667-2675
-
-
Barvencik, F.1
Beil, F.T.2
Gebauer, M.3
Busse, B.4
Koehne, T.5
Seitz, S.6
-
102
-
-
84884014750
-
The bone tissue defect in children with hypophosphatasia: histomorphometric study (abstract)
-
Rauch F, Greenberg CR, Whyte MP, Landy H, Travers R, Glorieux F The bone tissue defect in children with hypophosphatasia: histomorphometric study (abstract). J Bone Miner Res 2011, 26:S441.
-
(2011)
J Bone Miner Res
, vol.26
-
-
Rauch, F.1
Greenberg, C.R.2
Whyte, M.P.3
Landy, H.4
Travers, R.5
Glorieux, F.6
-
103
-
-
0025864009
-
Permanent teeth in hypophosphatasia: light and electron microscopic study
-
el-Labban NG, Lee KW, Rule D Permanent teeth in hypophosphatasia: light and electron microscopic study. J Oral Pathol Med 1991, 20:352-360.
-
(1991)
J Oral Pathol Med
, vol.20
, pp. 352-360
-
-
el-Labban, N.G.1
Lee, K.W.2
Rule, D.3
-
104
-
-
84884009161
-
-
Hypophosphatasia: natural history in childhood delineated from 25 years experience with 174 pediatric patients. 2011; [In manuscript].
-
Whyte MP, Mumm S, McAlister, WH, et al. Hypophosphatasia: natural history in childhood delineated from 25 years experience with 174 pediatric patients. 2011; [In manuscript].
-
-
-
Whyte, M.P.1
Mumm, S.2
McAlister, W.H.3
-
105
-
-
0018524952
-
Hypophosphatasia: biochemical diagnosis in post-mortem organs, plasma and diploid skin fibroblasts [proceedings]
-
Vanneuville FJ, Leroy JG Hypophosphatasia: biochemical diagnosis in post-mortem organs, plasma and diploid skin fibroblasts [proceedings]. Arch Int Physiol Biochim 1979, 87:854-855.
-
(1979)
Arch Int Physiol Biochim
, vol.87
, pp. 854-855
-
-
Vanneuville, F.J.1
Leroy, J.G.2
-
106
-
-
0020615163
-
Isoenzymes of alkaline phosphatase in infantile hypophosphatasia
-
Mueller HD, Stinson RA, Mohyuddin F, Milne JK Isoenzymes of alkaline phosphatase in infantile hypophosphatasia. J Lab Clin Med 1983, 102:24-30.
-
(1983)
J Lab Clin Med
, vol.102
, pp. 24-30
-
-
Mueller, H.D.1
Stinson, R.A.2
Mohyuddin, F.3
Milne, J.K.4
-
107
-
-
0017195805
-
Hypophosphatasia: a developmental anomaly of alkaline phosphatase?
-
Gorodischer R, Davidson RG, Mosovich LL, Yaffe SJ Hypophosphatasia: a developmental anomaly of alkaline phosphatase?. Pediatr Res 1976, 10:650-656.
-
(1976)
Pediatr Res
, vol.10
, pp. 650-656
-
-
Gorodischer, R.1
Davidson, R.G.2
Mosovich, L.L.3
Yaffe, S.J.4
-
108
-
-
84882881979
-
Infantile hypophosphatasia: Complementation analysis with skin fibroblast heterokaryons suggests a defect(s) at a single gene locus (abstract)
-
Whyte MP, 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.
-
(1984)
Am J Hum Genet
, vol.26
-
-
Whyte, M.P.1
Vrabel, L.2
-
109
-
-
0031964993
-
Increase in leukocyte alkaline phosphatase in a patient with hypophosphatasia during pregnancy
-
Iqbal SJ Increase in leukocyte alkaline phosphatase in a patient with hypophosphatasia during pregnancy. J Inherit Metabolic Dis 1998, 21:83-84.
-
(1998)
J Inherit Metabolic Dis
, vol.21
, pp. 83-84
-
-
Iqbal, S.J.1
-
110
-
-
0025145552
-
Immunological study on hypophosphatasia
-
Goseki M, Oida S, Takagi Y, Okuyama T, Watanabe J, Sasaki S Immunological study on hypophosphatasia. Clin Chim Acta. 1990, 190:263-268.
-
(1990)
Clin Chim Acta.
, vol.190
, pp. 263-268
-
-
Goseki, M.1
Oida, S.2
Takagi, Y.3
Okuyama, T.4
Watanabe, J.5
Sasaki, S.6
-
111
-
-
0030006499
-
Hypophosphatasia: Levels of bone alkaline phosphatase immunoreactivity in serum reflect disease severity
-
Whyte MP, Walkenhorst DA, Fedde KN, Henthorn PS, Hill CS Hypophosphatasia: Levels of bone alkaline phosphatase immunoreactivity in serum reflect disease severity. J Clin Endocrinol Metab 1996, 81:2142-2148.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 2142-2148
-
-
Whyte, M.P.1
Walkenhorst, D.A.2
Fedde, K.N.3
Henthorn, P.S.4
Hill, C.S.5
-
112
-
-
0023587499
-
Infantile hypophosphatasia: enzymatic defect explored with alkaline phosphatase-deficient skin fibroblasts in culture
-
Whyte MP, Rettinger SD, Vrabel LA Infantile hypophosphatasia: enzymatic defect explored with alkaline phosphatase-deficient skin fibroblasts in culture. Calcif Tissue Int 1987, 40:244-252.
-
(1987)
Calcif Tissue Int
, vol.40
, pp. 244-252
-
-
Whyte, M.P.1
Rettinger, S.D.2
Vrabel, L.A.3
-
113
-
-
0014404773
-
Intestinal alkaline phosphatase activity in familial hypophosphatasia
-
Danovitch SH, Baer PN, Laster L Intestinal alkaline phosphatase activity in familial hypophosphatasia. N Engl J Med 1968, 278:1253-1260.
-
(1968)
N Engl J Med
, vol.278
, pp. 1253-1260
-
-
Danovitch, S.H.1
Baer, P.N.2
Laster, L.3
-
114
-
-
0029931602
-
Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia
-
Fedde KN, Michell MP, Henthorn PS, Whyte MP 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.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 2587-2594
-
-
Fedde, K.N.1
Michell, M.P.2
Henthorn, P.S.3
Whyte, M.P.4
-
115
-
-
0023897043
-
6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5′-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase
-
6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5′-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase. J Clin Invest 1988, 81:1234-1239.
-
(1988)
J Clin Invest
, vol.81
, pp. 1234-1239
-
-
Whyte, M.P.1
Mahuren, J.D.2
Fedde, K.N.3
Cole, F.S.4
McCabe, E.R.5
Coburn, S.P.6
-
116
-
-
0023441853
-
Infantile hypophosphatasia--linkage with the RH locus
-
Chodirker BN, Evans JA, Lewis M, Coghlan G, Belcher E, Philipps S, et al. Infantile hypophosphatasia--linkage with the RH locus. Genomics 1987, 1:280-282.
-
(1987)
Genomics
, vol.1
, pp. 280-282
-
-
Chodirker, B.N.1
Evans, J.A.2
Lewis, M.3
Coghlan, G.4
Belcher, E.5
Philipps, S.6
-
117
-
-
0026713191
-
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia
-
Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Nat Acad Sci USA 1992, 89:9924-9928.
-
(1992)
Proc Nat Acad Sci USA
, vol.89
, pp. 9924-9928
-
-
Henthorn, P.S.1
Raducha, M.2
Fedde, K.N.3
Lafferty, M.A.4
Whyte, M.P.5
-
118
-
-
13144249219
-
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia
-
Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, Brenner R, 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.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 308-314
-
-
Mornet, E.1
Taillandier, A.2
Peyramaure, S.3
Kaper, F.4
Muller, F.5
Brenner, R.6
-
119
-
-
0001108105
-
Hypophosphatasia mutation D361V exhibits dominant effects both in vivo and in vitro (abstract)
-
A-199
-
Henthorn P, Ferrero A, Fedde K, Coburn SP, Whyte MP Hypophosphatasia mutation D361V exhibits dominant effects both in vivo and in vitro (abstract). Am J Hum Genet 1996, 59. A-199.
-
(1996)
Am J Hum Genet
, vol.59
-
-
Henthorn, P.1
Ferrero, A.2
Fedde, K.3
Coburn, S.P.4
Whyte, M.P.5
-
120
-
-
17544395958
-
Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317→Asp substitution associated with lethal hypophosphatasia
-
Fukushi M, Amizuka N, Hoshi K, Ozawa H, Kumagai H, Omura S, 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.
-
(1998)
Biochem Biophys Res Commun
, vol.246
, pp. 613-618
-
-
Fukushi, M.1
Amizuka, N.2
Hoshi, K.3
Ozawa, H.4
Kumagai, H.5
Omura, S.6
-
121
-
-
17744417675
-
Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients
-
Goseki-Sone M, Orimo H, Iimura T, Takagi Y, Watanabe H, Taketa K, 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.
-
(1998)
Hum Mutat
, Issue.SUPPL. 1
-
-
Goseki-Sone, M.1
Orimo, H.2
Iimura, T.3
Takagi, Y.4
Watanabe, H.5
Taketa, K.6
-
123
-
-
34147096126
-
Hypophosphatasia: The c.1133A>T, p.D378V transversion is the most common American TNSALP mutation (abstract)
-
Mumm S, Wenkert D, Zhang X, Geimer M, Zerega J, Whyte MP Hypophosphatasia: The c.1133A>T, p.D378V transversion is the most common American TNSALP mutation (abstract). J Bone Miner Res 2006, 21:S115.
-
(2006)
J Bone Miner Res
, vol.21
-
-
Mumm, S.1
Wenkert, D.2
Zhang, X.3
Geimer, M.4
Zerega, J.5
Whyte, M.P.6
-
124
-
-
70449323448
-
A genetical study of ethanolamine phosphate excretion in hypophosphatasia
-
Harris H, Robson EB A genetical study of ethanolamine phosphate excretion in hypophosphatasia. Ann Hum Genet 1959, 23:421-441.
-
(1959)
Ann Hum Genet
, vol.23
, pp. 421-441
-
-
Harris, H.1
Robson, E.B.2
-
125
-
-
0022359147
-
Morquio syndrome (MPS IVA) and hypophosphatasia in a Hutterite kindred
-
Lowry RB, Snyder FF, Wesenberg RL, Machin GA, Applegarth DA, Morgan K, et al. Morquio syndrome (MPS IVA) and hypophosphatasia in a Hutterite kindred. Am J Med Genet 1985, 22:463-475.
-
(1985)
Am J Med Genet
, vol.22
, pp. 463-475
-
-
Lowry, R.B.1
Snyder, F.F.2
Wesenberg, R.L.3
Machin, G.A.4
Applegarth, D.A.5
Morgan, K.6
-
126
-
-
0009721809
-
Familial nephrogenic osteopathy due to excessive tubular reabsorption of inorganic phosphate; a new syndrome and a novel mode of relief
-
Schneider RW, Corcoran AC 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.
-
(1950)
J Lab Clin Med
, vol.36
, pp. 985-986
-
-
Schneider, R.W.1
Corcoran, A.C.2
-
127
-
-
0021257603
-
Adult hypophosphatasia without apparent skeletal disease: "odontohypophosphatasia" in four heterozygote members of a family
-
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.
-
(1984)
Klin Wochenschr
, vol.62
, pp. 371-376
-
-
Eberle, F.1
Hartenfels, S.2
Pralle, H.3
Kabisch, A.4
-
128
-
-
0016258863
-
Hypophosphatasia with phenylketonuria
-
Blaskovics ME, Shaw KN Hypophosphatasia with phenylketonuria. Z Kinderheilkd 1974, 117:265-273.
-
(1974)
Z Kinderheilkd
, vol.117
, pp. 265-273
-
-
Blaskovics, M.E.1
Shaw, K.N.2
-
129
-
-
0021079828
-
Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality
-
Eastman JR, 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.
-
(1983)
J Craniofac Genet Dev Biol
, vol.3
, pp. 213-234
-
-
Eastman, J.R.1
Bixler, D.2
-
131
-
-
17344378498
-
Serum alkaline phosphatase, serum pyrophosphatase, phosphorylethanolamine and inorganic pyrophosphate in plasma and urine. A genetic and clinical study of hypophosphatasia
-
Sorensen SA, 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.
-
(1978)
Mono Hum Genet
, vol.10
, pp. 66-69
-
-
Sorensen, S.A.1
Flodgaard, H.2
Sorensen, E.3
-
132
-
-
0022637532
-
Infantile hypophosphatasia: normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase
-
Whyte MP, Magill HL, Fallon MD, Herrod HG 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.
-
(1986)
J Pediatr
, vol.108
, pp. 82-88
-
-
Whyte, M.P.1
Magill, H.L.2
Fallon, M.D.3
Herrod, H.G.4
-
133
-
-
33745053865
-
Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry
-
Whyte MP, 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.
-
(2006)
J Pediatr
, vol.148
, pp. 753-758
-
-
Whyte, M.P.1
Essmyer, K.2
Geimer, M.3
Mumm, S.4
-
134
-
-
84884067537
-
-
American Society for Bone and Mineral Research, 1986.
-
Ish-shalom S, Budden F, Fraser D, Harrison J, Josse RG, Kirsh J, et al. A follow-up of hypophosphatasia from infancy to adulthood (abstract) presented at the annual meeting of the Pediatric Working Group, American Society for Bone and Mineral Research, 1986.
-
A follow-up of hypophosphatasia from infancy to adulthood (abstract) presented at the annual meeting of the Pediatric Working Group
-
-
Ish-shalom, S.1
Budden, F.2
Fraser, D.3
Harrison, J.4
Josse, R.G.5
Kirsh, J.6
-
135
-
-
85047693142
-
Fifty-year follow-up of hypophosphatasia
-
Weinstein RS, Whyte MP Fifty-year follow-up of hypophosphatasia. Arch Int Med 1981, 141:1720-1721.
-
(1981)
Arch Int Med
, vol.141
, pp. 1720-1721
-
-
Weinstein, R.S.1
Whyte, M.P.2
-
136
-
-
33846943140
-
Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia
-
Girschick HJ, Schneider P, Haubitz I, Hiort O, Collmann H, Beer M, et al. Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. Orphanet J Rare Dis 2006, 1:24.
-
(2006)
Orphanet J Rare Dis
, vol.1
, pp. 24
-
-
Girschick, H.J.1
Schneider, P.2
Haubitz, I.3
Hiort, O.4
Collmann, H.5
Beer, M.6
-
137
-
-
0021719343
-
Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients
-
Whyte MP, McAlister WH, Patton LS, Magill HL, Fallon MD, Lorentz WB, et al. Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients. J Pediatr 1984, 105:926-933.
-
(1984)
J Pediatr
, vol.105
, pp. 926-933
-
-
Whyte, M.P.1
McAlister, W.H.2
Patton, L.S.3
Magill, H.L.4
Fallon, M.D.5
Lorentz, W.B.6
-
138
-
-
0030827641
-
Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization
-
Barcia JP, Strife CF, Langman CB Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization. J Pediatr 1997, 130:825-828.
-
(1997)
J Pediatr
, vol.130
, pp. 825-828
-
-
Barcia, J.P.1
Strife, C.F.2
Langman, C.B.3
-
139
-
-
0033892896
-
Infantile hypophosphatasia: disappointing results of treatment
-
Deeb AA, Bruce SN, Morris AA, Cheetham TD Infantile hypophosphatasia: disappointing results of treatment. Acta Paediatr 2000, 89:730-733.
-
(2000)
Acta Paediatr
, vol.89
, pp. 730-733
-
-
Deeb, A.A.1
Bruce, S.N.2
Morris, A.A.3
Cheetham, T.D.4
-
140
-
-
0014264613
-
Studies in hypophosphatasia and response to high phosphate intake
-
Bongiovanni AM, Album MM, Root AW, Hope JW, Marino J, Spencer DM Studies in hypophosphatasia and response to high phosphate intake. Am J Med Sci 1968, 255:163-170.
-
(1968)
Am J Med Sci
, vol.255
, pp. 163-170
-
-
Bongiovanni, A.M.1
Album, M.M.2
Root, A.W.3
Hope, J.W.4
Marino, J.5
Spencer, D.M.6
-
141
-
-
0043106107
-
Treatment of hypophosphatasia with cortisone
-
Fraser D, Laidlaw JC Treatment of hypophosphatasia with cortisone. Lancet 1956, 1:553.
-
(1956)
Lancet
, vol.1
, pp. 553
-
-
Fraser, D.1
Laidlaw, J.C.2
-
142
-
-
45849148915
-
Treatment of adult hypophosphatasia with teriparatide
-
Camacho PM, Painter S, Kadanoff R Treatment of adult hypophosphatasia with teriparatide. Endocr Pract 2008, 14:204-208.
-
(2008)
Endocr Pract
, vol.14
, pp. 204-208
-
-
Camacho, P.M.1
Painter, S.2
Kadanoff, R.3
-
143
-
-
78650046620
-
Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia
-
Schalin-Jantti C, Mornet E, Lamminen A, Valimaki MJ Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia. J Clin Endocrinol Metab 2010, 95:5174-5179.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 5174-5179
-
-
Schalin-Jantti, C.1
Mornet, E.2
Lamminen, A.3
Valimaki, M.J.4
-
144
-
-
0009761007
-
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 (abstract)
-
Whyte MP, Habib D, Coburn SP, Tecklenburg F, Ryan L, Fedde KN, 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 (abstract). J Bone Miner Res 1992, 7:S155.
-
(1992)
J Bone Miner Res
, vol.7
-
-
Whyte, M.P.1
Habib, D.2
Coburn, S.P.3
Tecklenburg, F.4
Ryan, L.5
Fedde, K.N.6
-
145
-
-
0024810414
-
Biochemical and morphological effects of human hepatic alkaline phosphatase in a neonate with hypophosphatasia
-
Weninger M, Stinson RA, 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.
-
(1989)
Acta Paediatr Scand Suppl
, vol.360
, pp. 154-160
-
-
Weninger, M.1
Stinson, R.A.2
Plenk, H.3
Bock, P.4
Pollak, A.5
-
146
-
-
0028914274
-
Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy
-
Whyte MP, Landt M, Ryan LM, Mulivor RA, Henthorn PS, Fedde KN, et al. Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy. J Clin Invest 1995, 95:1440-1445.
-
(1995)
J Clin Invest
, vol.95
, pp. 1440-1445
-
-
Whyte, M.P.1
Landt, M.2
Ryan, L.M.3
Mulivor, R.A.4
Henthorn, P.S.5
Fedde, K.N.6
-
147
-
-
34547743240
-
Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts
-
Cahill RA, Wenkert D, Perlman SA, Steele A, Coburn SP, McAlister WH, et al. Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts. J Clin Endocrinol Metab 2007, 92:2923-2930.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 2923-2930
-
-
Cahill, R.A.1
Wenkert, D.2
Perlman, S.A.3
Steele, A.4
Coburn, S.P.5
McAlister, W.H.6
-
148
-
-
65549127189
-
New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia
-
Tadokoro M, Kanai R, Taketani T, Uchio Y, Yamaguchi S, Ohgushi H New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia. J Pediatr 2009, 154:924-930.
-
(2009)
J Pediatr
, vol.154
, pp. 924-930
-
-
Tadokoro, M.1
Kanai, R.2
Taketani, T.3
Uchio, Y.4
Yamaguchi, S.5
Ohgushi, H.6
-
149
-
-
78650956613
-
Prolonged survival and phenotypic correction of Akp2(-/-) hypophosphatasia mice by lentiviral gene therapy
-
Yamamoto S, Orimo H, Matsumoto T, Iijima O, Narisawa S, Maeda T, et al. Prolonged survival and phenotypic correction of Akp2(-/-) hypophosphatasia mice by lentiviral gene therapy. J Bone Miner Res 2011, 26:135-142.
-
(2011)
J Bone Miner Res
, vol.26
, pp. 135-142
-
-
Yamamoto, S.1
Orimo, H.2
Matsumoto, T.3
Iijima, O.4
Narisawa, S.5
Maeda, T.6
-
150
-
-
44449145465
-
Enzyme replacement therapy for murine hypophosphatasia
-
Millan JL, Narisawa S, Lemire I, Loisel TP, Boileau G, Leonard P, et al. Enzyme replacement therapy for murine hypophosphatasia. J Bone Miner Res 2008, 23:777-787.
-
(2008)
J Bone Miner Res
, vol.23
, pp. 777-787
-
-
Millan, J.L.1
Narisawa, S.2
Lemire, I.3
Loisel, T.P.4
Boileau, G.5
Leonard, P.6
-
151
-
-
79954604148
-
Enzyme replacement therapy prevents dental defects in a model of hypophosphatasia
-
McKee M, Nakano Y, Masica DL, Gray JJ, Lemire I, Heft R, et al. Enzyme replacement therapy prevents dental defects in a model of hypophosphatasia. J Dent Res 2011, 90:470-476.
-
(2011)
J Dent Res
, vol.90
, pp. 470-476
-
-
McKee, M.1
Nakano, Y.2
Masica, D.L.3
Gray, J.J.4
Lemire, I.5
Heft, R.6
-
152
-
-
84884012797
-
-
Whyte MP, Greenberg CR, Wenkert D, McAlister WH, Madson KL, Reeves AL, et al. Hypophosphatasia (HPP): enzyme replacement therapy (EzRT) for children using bone-targeted, tissue nonspecific alkaline phosphatase (abstract). Annual Endocrine Society Meeting 2010 Abstract number OR11-4. Available at .
-
Whyte MP, Greenberg CR, Wenkert D, McAlister WH, Madson KL, Reeves AL, et al. Hypophosphatasia (HPP): enzyme replacement therapy (EzRT) for children using bone-targeted, tissue nonspecific alkaline phosphatase (abstract). Annual Endocrine Society Meeting 2010 Abstract number OR11-4. Available at . http://www.endojournals.org/site/abstracts/OR01-1_to_OR43-6.pdf.
-
-
-
-
153
-
-
80053200620
-
Hypophosphatasia: Enzyme replacement therapy for children using bone-targeted, tissue-nonspecific alkaline phosphatase (abstract)
-
Whyte MP, Greenberg CR, Wenkert D, McAlister WH, Madson KL, et al. Hypophosphatasia: Enzyme replacement therapy for children using bone-targeted, tissue-nonspecific alkaline phosphatase (abstract). J Bone Miner Res 2010, 25:S5.
-
(2010)
J Bone Miner Res
, vol.25
-
-
Whyte, M.P.1
Greenberg, C.R.2
Wenkert, D.3
McAlister, W.H.4
Madson, K.L.5
-
154
-
-
0017083232
-
Prenatal diagnosis of hypophosphatasia
-
Rudd NL, Miskin M, Hoar DI, Benzie R, Doran TA Prenatal diagnosis of hypophosphatasia. N Engl J Med 1976, 295:146-148.
-
(1976)
N Engl J Med
, vol.295
, pp. 146-148
-
-
Rudd, N.L.1
Miskin, M.2
Hoar, D.I.3
Benzie, R.4
Doran, T.A.5
-
155
-
-
0017807590
-
Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies
-
Mulivor RA, Mennuti M, Zackai EH, Harris H Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies. Am J Hum Genet. 1978, 30:271-282.
-
(1978)
Am J Hum Genet.
, vol.30
, pp. 271-282
-
-
Mulivor, R.A.1
Mennuti, M.2
Zackai, E.H.3
Harris, H.4
-
156
-
-
0025766004
-
First-trimester prenatal diagnosis of hypophosphatasia: experience with 16 cases
-
Brock DJ, Barron L First-trimester prenatal diagnosis of hypophosphatasia: experience with 16 cases. Prenatal Diagn 1991, 11:387-391.
-
(1991)
Prenatal Diagn
, vol.11
, pp. 387-391
-
-
Brock, D.J.1
Barron, L.2
-
157
-
-
0025181430
-
Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers
-
Greenberg CR, Evans JA, McKendry-Smith S, Redekopp S, Haworth JC, Mulivor R, 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.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 286-292
-
-
Greenberg, C.R.1
Evans, J.A.2
McKendry-Smith, S.3
Redekopp, S.4
Haworth, J.C.5
Mulivor, R.6
-
158
-
-
0021736190
-
Hypophosphatasia: complete absence of the fetal skeleton
-
Hausser C, Habib R, Poitras P Hypophosphatasia: complete absence of the fetal skeleton. Union Med Can 1984, 113:978-979.
-
(1984)
Union Med Can
, vol.113
, pp. 978-979
-
-
Hausser, C.1
Habib, R.2
Poitras, P.3
-
159
-
-
0028861934
-
Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations
-
Henthorn PS, Whyte MP Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations. Prenatal Diagn 1995, 15:1001-1006.
-
(1995)
Prenatal Diagn
, vol.15
, pp. 1001-1006
-
-
Henthorn, P.S.1
Whyte, M.P.2
-
160
-
-
0030014195
-
First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family
-
Orimo H, Nakajima E, Hayashi Z, Kijima K, Watanabe A, Tenjin H, et al. First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family. Prenatal Diagn 1996, 16:559-563.
-
(1996)
Prenatal Diagn
, vol.16
, pp. 559-563
-
-
Orimo, H.1
Nakajima, E.2
Hayashi, Z.3
Kijima, K.4
Watanabe, A.5
Tenjin, H.6
-
161
-
-
0033386205
-
Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia
-
Fedde KN, Blair L, Silverstein J, Coburn SP, Ryan LM, Weinstein RS, et al. Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia. J Bone Miner Res 1999, 14:2015-2026.
-
(1999)
J Bone Miner Res
, vol.14
, pp. 2015-2026
-
-
Fedde, K.N.1
Blair, L.2
Silverstein, J.3
Coburn, S.P.4
Ryan, L.M.5
Weinstein, R.S.6
-
162
-
-
36048995717
-
Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2
-
Hough TA, Polewski M, Johnson K, Cheeseman M, Nolan PM, Vizor L, 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.
-
(2007)
J Bone Miner Res
, vol.22
, pp. 1397-1407
-
-
Hough, T.A.1
Polewski, M.2
Johnson, K.3
Cheeseman, M.4
Nolan, P.M.5
Vizor, L.6
-
163
-
-
0027364067
-
Evidence against a role for alkaline phosphatase in the dephosphorylation of plasma membrane proteins: hypophosphatasia fibroblast study
-
Fedde KN, Michel MP, Whyte MP Evidence against a role for alkaline phosphatase in the dephosphorylation of plasma membrane proteins: hypophosphatasia fibroblast study. J Cell Biochem 1993, 53:43-50.
-
(1993)
J Cell Biochem
, vol.53
, pp. 43-50
-
-
Fedde, K.N.1
Michel, M.P.2
Whyte, M.P.3
-
164
-
-
0025184825
-
Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal- 5′-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study
-
Fedde KN, Whyte MP Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal- 5′-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study. Am J Hum Genet 1990, 47:767-775.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 767-775
-
-
Fedde, K.N.1
Whyte, M.P.2
-
165
-
-
0014335485
-
Phosphorylethanolamine and hypophosphatasia
-
Rasmussen K Phosphorylethanolamine and hypophosphatasia. Dan Med Bulletin 1968, 15:1-112.
-
(1968)
Dan Med Bulletin
, vol.15
, pp. 1-112
-
-
Rasmussen, K.1
-
166
-
-
0017879607
-
Mammalian O-phosphorylethanolamine phospho-lyase activity and its inhibition
-
Gron IH Mammalian O-phosphorylethanolamine phospho-lyase activity and its inhibition. Scand J Clin Lab Invest 1978, 38:107-112.
-
(1978)
Scand J Clin Lab Invest
, vol.38
, pp. 107-112
-
-
Gron, I.H.1
-
167
-
-
0008759730
-
-
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
-
Takahashi T, Iwantanti A, Mizuno S, Morishita Y, Nishio H, Kodama 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.
-
(1984)
The relationship between phosphoethanolamine level in serum and intractable seizure on hypohosphatasia infantile form.
-
-
Takahashi, T.1
Iwantanti, A.2
Mizuno, S.3
Morishita, Y.4
Nishio, H.5
Kodama, S.6
-
168
-
-
0022971360
-
Normal activity of nucleoside triphosphate pyrophosphatase in alkaline phosphatase-deficient fibroblasts from patients with infantile hypophosphatasia
-
Caswell AM, Whyte MP, Russell RG Normal activity of nucleoside triphosphate pyrophosphatase in alkaline phosphatase-deficient fibroblasts from patients with infantile hypophosphatasia. J Clin Endocrinol Metab 1986, 63:1237-1241.
-
(1986)
J Clin Endocrinol Metab
, vol.63
, pp. 1237-1241
-
-
Caswell, A.M.1
Whyte, M.P.2
Russell, R.G.3
-
169
-
-
0021719343
-
Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients
-
Whyte MP, McAlister WH, Patton LS, Magill HL, Fallon MD, Lorentz WB, et al. Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients. J Pediatr 1984, 105:926-933.
-
(1984)
J Pediatr
, vol.105
, pp. 926-933
-
-
Whyte, M.P.1
McAlister, W.H.2
Patton, L.S.3
Magill, H.L.4
Fallon, M.D.5
Lorentz, W.B.6
-
170
-
-
20444502785
-
Metabolic abnormalities in hypophosphatasia
-
Fraser D, Yendt ER, Christie FH Metabolic abnormalities in hypophosphatasia. Lancet 1955, 268:286.
-
(1955)
Lancet
, vol.268
, pp. 286
-
-
Fraser, D.1
Yendt, E.R.2
Christie, F.H.3
-
171
-
-
79251482785
-
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
-
Yadav MC, Simao AM, Narisawa S, Huesa C, McKee MD, Farquharson C, 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.
-
(2011)
J Bone Miner Res
, vol.26
, pp. 286-297
-
-
Yadav, M.C.1
Simao, A.M.2
Narisawa, S.3
Huesa, C.4
McKee, M.D.5
Farquharson, C.6
-
172
-
-
18244392685
-
Unique coexpression in osteoblasts of broadly expressed genes accounts for the spatial restriction of ECM mineralization to bone
-
Murshed M, Harmey D, Millan JL, McKee MD, Karsenty G Unique coexpression in osteoblasts of broadly expressed genes accounts for the spatial restriction of ECM mineralization to bone. Genes Dev 2005, 19:1093-1104.
-
(2005)
Genes Dev
, vol.19
, pp. 1093-1104
-
-
Murshed, M.1
Harmey, D.2
Millan, J.L.3
McKee, M.D.4
Karsenty, G.5
|