-
1
-
-
0001551832
-
Hypophosphatasia
-
Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, eds, 8th ed. New York: McGraw-Hill;
-
Whyte MP 2001 Hypophosphatasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 5313-5329
-
(2001)
The metabolic and molecular bases of inherited disease
, pp. 5313-5329
-
-
Whyte, M.P.1
-
2
-
-
0000791302
-
Hypophosphatasia: Nature's window on alkaline phosphatase function in man
-
Bilezikian JP, Raisz LG, Rodan GA, eds, 2nd ed. San Diego, CA: Academic Press;
-
Whyte MP 2002 Hypophosphatasia: nature's window on alkaline phosphatase function in man. In: Bilezikian JP, Raisz LG, Rodan GA, eds. Principles of bone biology. 2nd ed. San Diego, CA: Academic Press; 1229-1248
-
(2002)
Principles of bone biology
, pp. 1229-1248
-
-
Whyte, M.P.1
-
4
-
-
0023897043
-
6 are unremarkable despite markedly increased circulating concentrations of pyridoxa1-5′- phosphate (evidence for an ectoenzyme role for tissue nonspecific alkaline phosphatase)
-
6 are unremarkable despite markedly increased circulating concentrations of pyridoxa1-5′- phosphate (evidence for an ectoenzyme role for tissue nonspecific alkaline phosphatase). J Clin Invest 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
Coburn, S.P.5
-
5
-
-
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 1971 Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone. J Clin Invest 50:961-969
-
(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
-
6
-
-
0014029045
-
Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis
-
Fleisch H, Russell RG, Straumann F 1966 Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis. Nature 212:901-903
-
(1966)
Nature
, vol.212
, pp. 901-903
-
-
Fleisch, H.1
Russell, R.G.2
Straumann, F.3
-
8
-
-
0031764923
-
Alkaline phosphatase (EC 3.1.3.1) in serum is inhibited by physiological concentrations of inorganic phosphate
-
Coburn SP, Mahuren JD, Jain M, Zubovic Y, Wortsman J 1998 Alkaline phosphatase (EC 3.1.3.1) in serum is inhibited by physiological concentrations of inorganic phosphate. J Clin Endocrinol Metab 83:3951-3957
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3951-3957
-
-
Coburn, S.P.1
Mahuren, J.D.2
Jain, M.3
Zubovic, Y.4
Wortsman, J.5
-
9
-
-
4243596481
-
Dietary phosphate restriction therapy for hypophosphatasia: Preliminary observations
-
Abstract
-
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(Suppl 1):S384 (Abstract)
-
(2002)
J Bone Miner Res
, vol.17
, Issue.SUPPL. 1
-
-
Wenkert, D.1
Podgornik, M.N.2
Coburn, S.P.3
Ryan, L.M.4
Mumm, S.5
Whyte, M.P.6
-
10
-
-
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 KE, Geimer M, Mumm S 2006 Homozygosity for TNSALP mutation 1348C>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry. J Pediatr 148:753-758
-
(2006)
J Pediatr
, vol.148
, pp. 753-758
-
-
Whyte, M.P.1
Essmyer, K.E.2
Geimer, M.3
Mumm, S.4
-
11
-
-
85030520327
-
-
France: SESEP Laboratory at the University of Versailles-Saint Quentin, Accessed October 20
-
Mornet E 2006 Tissue nonspecific alkaline phosphatase gene mutations online database. Yvelines, France: SESEP Laboratory at the University of Versailles-Saint Quentin. http://www.sesep.uvsq.fr/database_hypo/ hypophosphatasia. html. Accessed October 20, 2006
-
(2006)
Yvelines, Tissue nonspecific alkaline phosphatase gene mutations online database
-
-
Mornet, E.1
-
12
-
-
0018718890
-
Adult hypophosphatasia: Clinical, laboratory and genetic investigation of a large kindred with review of the literature
-
Whyte MP, Teitelbaum SL, Murphy WA, Bergfeld M, Avioli LV 1979 Adult hypophosphatasia: clinical, laboratory and genetic investigation of a large kindred with review of the literature. Medicine (Baltimore) 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.4
Avioli, L.V.5
-
13
-
-
0019421502
-
Heterogeneity of adult hypophosphatasia: Report of severe and mild cases
-
Weinstein RS, Whyte MP 1981 Heterogeneity of adult hypophosphatasia: report of severe and mild cases. Arch Intern Med 141:727-731
-
(1981)
Arch Intern Med
, vol.141
, pp. 727-731
-
-
Weinstein, R.S.1
Whyte, M.P.2
-
14
-
-
0019940289
-
Adult hypophosphatasia with chondrocalcinosis and arthropathy: Variable penetrance of hypophosphatasemia in a large Oklahoma kindred
-
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 72:631-641
-
(1982)
Am J Med
, vol.72
, pp. 631-641
-
-
Whyte, M.P.1
Murphy, W.A.2
Fallon, M.D.3
-
15
-
-
33847748635
-
Low serum alkaline phosphatase activity with pathologic fracture: Case report and brief review of hypophosphatasia diagnosed in adulthood
-
Khandwala HM, Mumm S, Whyte MP 2006 Low serum alkaline phosphatase activity with pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood. Endocr Pract 12:676-681
-
(2006)
Endocr Pract
, vol.12
, pp. 676-681
-
-
Khandwala, H.M.1
Mumm, S.2
Whyte, M.P.3
-
16
-
-
0041805439
-
Marrow cell transplantation for infantile hypophosphatasia
-
Whyte MP, Kurtzberg J, McAlister WH, Mumm S, Podgornik MN, Coburn SP, Ryan LM, Miller CR, Gottesman GS, Smith AK, Douville J, Waters-Pick B, Armstrong RD, Martin PL 2003 Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res 18:624-636
-
(2003)
J Bone Miner Res
, vol.18
, pp. 624-636
-
-
Whyte, M.P.1
Kurtzberg, J.2
McAlister, W.H.3
Mumm, S.4
Podgornik, M.N.5
Coburn, S.P.6
Ryan, L.M.7
Miller, C.R.8
Gottesman, G.S.9
Smith, A.K.10
Douville, J.11
Waters-Pick, B.12
Armstrong, R.D.13
Martin, P.L.14
-
17
-
-
0036353341
-
Denaturing gradient gel electrophoresis analysis of the tissue non-specific alkaline phosphatase isoenzyme gene in hypophosphatasia
-
Mumm S, Jones J, Finnegan P, Henthorn PS, Podgornik M, Whyte MP 2002 Denaturing gradient gel electrophoresis analysis of the tissue non-specific alkaline phosphatase isoenzyme gene in hypophosphatasia. Mol Genet Metab 75:143-153
-
(2002)
Mol Genet Metab
, vol.75
, pp. 143-153
-
-
Mumm, S.1
Jones, J.2
Finnegan, P.3
Henthorn, P.S.4
Podgornik, M.5
Whyte, M.P.6
-
18
-
-
0035992613
-
Kinetic characterization of hypophosphatasia mutations with physiological substrates
-
Di Mauro S, Manes T, Hessle L, Kozlenkov A, Pizauro JM, Hoylaerts MF, Millán JL 2002 Kinetic characterization of hypophosphatasia mutations with physiological substrates. J Bone Miner Res 17:1383-1391
-
(2002)
J Bone Miner Res
, vol.17
, pp. 1383-1391
-
-
Di Mauro, S.1
Manes, T.2
Hessle, L.3
Kozlenkov, A.4
Pizauro, J.M.5
Hoylaerts, M.F.6
Millán, J.L.7
-
19
-
-
0035837553
-
Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis.NEngl
-
Neer RM, Arnaud CD, Zanchetta JR, Prince R, Gaich GA, Reginster JY, Hodsman AB, Eriksen EF, Ish-Shalom S, Genant, HK, Wang O, Mitlak BH 2001 Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis.NEngl J Med 344:1434-1441
-
(2001)
J Med
, vol.344
, pp. 1434-1441
-
-
Neer, R.M.1
Arnaud, C.D.2
Zanchetta, J.R.3
Prince, R.4
Gaich, G.A.5
Reginster, J.Y.6
Hodsman, A.B.7
Eriksen, E.F.8
Ish-Shalom, S.9
Genant, H.K.10
Wang, O.11
Mitlak, B.H.12
-
20
-
-
0025974476
-
X-linked hypophosphatemia in adults: Skeletal mass assessed by histomorphometry, computed tomography, and absorptiometry
-
Reid IR, Hardy DC, Murphy WA, Teitelbaum SL, Bergfeld MA, Whyte MP 1991 X-linked hypophosphatemia in adults: skeletal mass assessed by histomorphometry, computed tomography, and absorptiometry. Am J Med 90: 63-69
-
(1991)
Am J Med
, vol.90
, pp. 63-69
-
-
Reid, I.R.1
Hardy, D.C.2
Murphy, W.A.3
Teitelbaum, S.L.4
Bergfeld, M.A.5
Whyte, M.P.6
-
21
-
-
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 2006 Hypophosphatasia: the c. 1133A>T, p.D378V transversion is the most common American TNSALP mutation. J Bone Miner Res 21(Suppl 1):S115 (Abstract)
-
(2006)
J Bone Miner Res
, vol.21
, Issue.SUPPL. 1
-
-
Mumm, S.1
Wenkert, D.2
Zhang, X.3
Geimer, M.4
Zerega, J.5
Whyte, M.P.6
-
22
-
-
0034908554
-
Nomenclature for the description of human sequence variations
-
Den Dunnen JT, Antonarakis E 2001 Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
-
(2001)
Hum Genet
, vol.109
, pp. 121-124
-
-
Den Dunnen, J.T.1
Antonarakis, E.2
-
23
-
-
16644375200
-
Residues determining the binding specificity of uncompetitive inhibitors to tissue-nonspecific alkaline phosphatase
-
Kozlenkov A, Le Du MH, Cuniasse P, Ny T, Hoylaerts MF, Millan JL 2004 Residues determining the binding specificity of uncompetitive inhibitors to tissue-nonspecific alkaline phosphatase. J Bone Miner Res 19:1862-1872
-
(2004)
J Bone Miner Res
, vol.19
, pp. 1862-1872
-
-
Kozlenkov, A.1
Le Du, M.H.2
Cuniasse, P.3
Ny, T.4
Hoylaerts, M.F.5
Millan, J.L.6
-
24
-
-
0034335426
-
Asp361Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wildtype enzyme
-
Muller HL, Yamazaki M, Michigami T, Kageyama T, Schonau E, Schneider P, Ozono K 2000 Asp361Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wildtype enzyme. J Clin Endocrinol Metab 85:743-747
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 743-747
-
-
Muller, H.L.1
Yamazaki, M.2
Michigami, T.3
Kageyama, T.4
Schonau, E.5
Schneider, P.6
Ozono, K.7
-
25
-
-
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 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 89:9924-9928
-
(1992)
Proc Natl 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
-
26
-
-
0035937857
-
Crystal structure of alkaline phosphatase from human placenta at 1.8 A resolution. Implication for a substrate specificity
-
Le Du MH, Stigbrand T, Taussig MJ, Menez A, Stura EA 2001 Crystal structure of alkaline phosphatase from human placenta at 1.8 A resolution. Implication for a substrate specificity. J Biol Chem 276:9158-9165
-
(2001)
J Biol Chem
, vol.276
, pp. 9158-9165
-
-
Le Du, M.H.1
Stigbrand, T.2
Taussig, M.J.3
Menez, A.4
Stura, E.A.5
-
27
-
-
0035903096
-
Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization
-
Mornet E, Stura E, Lia-Baldini AS, Stigbrand T, Menez A, Le Du MH 2001 Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization. J Biol Chem 276:31171-31178
-
(2001)
J Biol Chem
, vol.276
, pp. 31171-31178
-
-
Mornet, E.1
Stura, E.2
Lia-Baldini, A.S.3
Stigbrand, T.4
Menez, A.5
Le Du, M.H.6
-
28
-
-
0032589092
-
Correlations of genotype and phenotype in hypophosphatasia
-
Zurutuza L, Muller F, Gibrat JF, Taillandier A, Simon-Bouy B, Serre JL, Mornet E 1999 Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet 8:1039-1046
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1039-1046
-
-
Zurutuza, L.1
Muller, F.2
Gibrat, J.F.3
Taillandier, A.4
Simon-Bouy, B.5
Serre, J.L.6
Mornet, E.7
-
29
-
-
33745044890
-
Successful transplantation of infantile hypophosphatasia using bone fragments and cultured osteoblasts
-
Abstract
-
Cahill R, Perlman S, Mumm S, McAlister WH, Whyte MP 2005 Successful transplantation of infantile hypophosphatasia using bone fragments and cultured osteoblasts. J Bone Miner Res 20(Suppl 1): S42 (Abstract)
-
(2005)
J Bone Miner Res
, vol.20
, Issue.SUPPL. 1
-
-
Cahill, R.1
Perlman, S.2
Mumm, S.3
McAlister, W.H.4
Whyte, M.P.5
-
30
-
-
34147179147
-
Prolonged survival in generalized arterial calcification of infancy is associated with hypophosphatemia and renal phosphate wasting
-
Salt Lake City, UT, Abstract
-
Rutsch F, Lorenz-Depiereux B, Ruf N, Ciana G, Mughal Z, Loirat C, Davies J, Nürnberg P, Strom T, Schnabel D, Prolonged survival in generalized arterial calcification of infancy is associated with hypophosphatemia and renal phosphate wasting. Proc 55th Annual Meeting of the American Society of Human Genetics, Salt Lake City, UT, 2005, p 122 (Abstract)
-
(2005)
Proc 55th Annual Meeting of the American Society of Human Genetics
, pp. 122
-
-
Rutsch, F.1
Lorenz-Depiereux, B.2
Ruf, N.3
Ciana, G.4
Mughal, Z.5
Loirat, C.6
Davies, J.7
Nürnberg, P.8
Strom, T.9
Schnabel, D.10
-
31
-
-
0031971180
-
Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162->Thr mutation associated with lethal hypophosphatasia
-
Shibata H, Fukushi M, Igarashi A, Misumi Y, Ikehara Y, Ohashi Y, Oda K 1998 Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162->Thr mutation associated with lethal hypophosphatasia. J Biochem (Tokyo) 123:967-977
-
(1998)
J Biochem (Tokyo)
, vol.123
, pp. 967-977
-
-
Shibata, H.1
Fukushi, M.2
Igarashi, A.3
Misumi, Y.4
Ikehara, Y.5
Ohashi, Y.6
Oda, K.7
-
32
-
-
0031759499
-
Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients
-
Goseki-Sone M, Orimo H, Iimura T, Miyazaki H, Oda K, Shibata H, Yanagishita M, Takagi Y, Watanabe H, Shimada T, Oida S 1998 Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients. J Bone Miner Res 13:1827-1834
-
(1998)
J Bone Miner Res
, vol.13
, pp. 1827-1834
-
-
Goseki-Sone, M.1
Orimo, H.2
Iimura, T.3
Miyazaki, H.4
Oda, K.5
Shibata, H.6
Yanagishita, M.7
Takagi, Y.8
Watanabe, H.9
Shimada, T.10
Oida, S.11
-
33
-
-
15444357168
-
Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras
-
Cai G, Michigami T, Yamamoto T, Yasui N, Satomura K, Yamagata M, Shima M, Nakajima S, Mushiake S, Okada S, Ozono K 1998 Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras. J Clin Endocrinol Metab 83:3936-3942
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3936-3942
-
-
Cai, G.1
Michigami, T.2
Yamamoto, T.3
Yasui, N.4
Satomura, K.5
Yamagata, M.6
Shima, M.7
Nakajima, S.8
Mushiake, S.9
Okada, S.10
Ozono, K.11
-
34
-
-
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 1986 Infantile hypophosphatasia: normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase. J Pediatr 108:82-88
-
(1986)
J Pediatr
, vol.108
, pp. 82-88
-
-
Whyte, M.P.1
Magill, H.L.2
Fallon, M.D.3
Herrod, H.G.4
-
35
-
-
0019965925
-
Infantile hypophosphatasia: Enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease
-
Whyte MP, Valdes Jr R, 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 101:379-386
-
(1982)
J Pediatr
, vol.101
, pp. 379-386
-
-
Whyte, M.P.1
Valdes Jr, R.2
Ryan, L.M.3
McAlister, W.H.4
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