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1
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0001594259
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Hypophosphatasia
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Scriver CR, Beaudet AL, Sly WS, et al, eds, 8th ed. New York, NY: McGraw-Hill
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Whyte MP. Hypophosphatasia. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill, 2001: 5313-5329.
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The Metabolic and Molecular Bases of Inherited Disease
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Whyte, M.P.1
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2
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0000791302
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Hypophosphatasia: Nature's window on alkaline phosphatase function in man
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Bilezikian JP, Raisz LG, Rodan GA, eds, 2nd ed. San Diego, CA: Academic Press
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Whyte MP. 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, 2002: 1229-1248.
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Principles of Bone Biology
, pp. 1229-1248
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Whyte, M.P.1
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3
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0018718890
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Adult hypophosphatasia: Clinical, laboratory, and genetic investigation of a large kindred with review of the literature
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Whyte MP, Teitelbaum SL, Murphy WA, Bergfeld MA, Avioli L. Adult hypophosphatasia: clinical, laboratory, and genetic investigation of a large kindred with review of the literature. Medicine (Baltimore). 1979;58:329-347.
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Medicine (Baltimore)
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Whyte, M.P.1
Teitelbaum, S.L.2
Murphy, W.A.3
Bergfeld, M.A.4
Avioli, L.5
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4
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0019421502
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Heterogeneity of adult hypophosphatasia: Report of severe and mild cases
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Weinstein RS, Whyte MP. Heterogeneity of adult hypophosphatasia: report of severe and mild cases. Arch Intern Med. 1981;141:727-731.
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(1981)
Arch Intern Med
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Weinstein, R.S.1
Whyte, M.P.2
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5
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0019940289
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Adult hypophosphatasia with chondrocalcinosis and arthropathy: Variable penetrance of hypophosphatasemia in a large Oklahoma kindred
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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.
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(1982)
Am J Med
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Whyte, M.P.1
Murphy, W.A.2
Fallon, M.D.3
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6
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0023897043
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Perinatal hypophosphatasia: Tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxa1-5′-phosphate; evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase
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Whyte MP, Mahuren JD, Fedde KN, Cole FS, McCabe ER, Coburn SP. Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxa1-5′-phosphate; evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase. J Clin Invest. 1988;81:1234-1239.
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(1988)
J Clin Invest
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Whyte, M.P.1
Mahuren, J.D.2
Fedde, K.N.3
Cole, F.S.4
McCabe, E.R.5
Coburn, S.P.6
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7
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0036353341
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Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia
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Mumm S, Jones J, Finnegan P, Henthorn PS, Podgornik MN, Whyte MP. Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia. Mol Genet Metab. 2002;75:143-153.
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(2002)
Mol Genet Metab
, vol.75
, pp. 143-153
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Mumm, S.1
Jones, J.2
Finnegan, P.3
Henthorn, P.S.4
Podgornik, M.N.5
Whyte, M.P.6
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8
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0034908554
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Nomenclature for the description of human sequence variations
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den Dunnen JT, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet. 2001;109:121-124.
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(2001)
Hum Genet
, vol.109
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den Dunnen, J.T.1
Antonarakis, S.E.2
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10
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0035235869
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Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia
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Taillandier A, Lia-Baldini AS, Mouchard M, et al. Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. Hum Mutat. 2001;18:83-84.
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Hum Mutat
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Taillandier, A.1
Lia-Baldini, A.S.2
Mouchard, M.3
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11
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0000034593
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Hypophosphatasia: A new developmental anomaly
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Rathbun JC. Hypophosphatasia: a new developmental anomaly. Am J Dis Child. 1948;75:822-831.
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Am J Dis Child
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Rathbun, J.C.1
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12
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0030827641
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Infantile hypophosphatasia: Treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization
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Barcia JP, Strife CF, Langman CB. Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization. J Pediatr. 1997;130:825-828.
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Barcia, J.P.1
Strife, C.F.2
Langman, C.B.3
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13
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0027337157
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A homoallelic Gly317-to-Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites
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Greenberg CR, Taylor CL, Haworth JC, et al. A homoallelic Gly317-to-Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites. Genomics. 1993;17:215-217.
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Genomics
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Greenberg, C.R.1
Taylor, C.L.2
Haworth, J.C.3
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14
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33745053865
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Homozygosity for TNSALP mutation 1348C>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry
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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.
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(2006)
J Pediatr
, vol.148
, pp. 753-758
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Whyte, M.P.1
Essmyer, K.2
Geimer, M.3
Mumm, S.4
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15
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77649127584
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Rickets and osteomalacia (acquired and heritable forms)
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Wass JAH, Shalet SM, eds, Oxford, UK: Oxford University Press
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Whyte MP. Rickets and osteomalacia (acquired and heritable forms). In: Wass JAH, Shalet SM, eds. The Oxford Textbook of Endocrinology and Diabetes. Oxford, UK: Oxford University Press, 2002: 697-715.
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(2002)
The Oxford Textbook of Endocrinology and Diabetes
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Whyte, M.P.1
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16
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0017759124
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Analysis of inorganic pyrophosphate at the picomole level
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Cheung CP, Suhadolnik RJ. Analysis of inorganic pyrophosphate at the picomole level. Ann Biochem. 1977;83:61-63.
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(1977)
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Cheung, C.P.1
Suhadolnik, R.J.2
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17
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0021324071
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Hypophosphatasia: Clinico-pathologic comparison of the infantile, childhood, and adult forms
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Fallon MD, Teitelbaum SL, Weinstein RS, Goldfischer S, Brown DM, Whyte MP. Hypophosphatasia: clinico-pathologic comparison of the infantile, childhood, and adult forms. Medicine (Baltimore). 1984;63:12-24.
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(1984)
Medicine (Baltimore)
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Fallon, M.D.1
Teitelbaum, S.L.2
Weinstein, R.S.3
Goldfischer, S.4
Brown, D.M.5
Whyte, M.P.6
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18
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33644644712
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Cementum and dentin in hypophosphatasia
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van den Bos T, Handoko G, Niehof A, et al. Cementum and dentin in hypophosphatasia. J Dent Res. 2005;84:1021-1025.
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(2005)
J Dent Res
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van den Bos, T.1
Handoko, G.2
Niehof, A.3
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19
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85036798521
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Available at:, Accessed for verification March 11, 2006
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GeneTests. Available at: http://genetests.org/. Accessed for verification March 11, 2006.
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20
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0035903096
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Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization
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Mornet E, Stura E, Lia-Baldini AS, Stigbrand T, Menez A, Le Du MH. Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization. J Biol Chem. 2001;276:31171-31178.
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Mornet, E.1
Stura, E.2
Lia-Baldini, A.S.3
Stigbrand, T.4
Menez, A.5
Le Du, M.H.6
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21
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0027373184
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Modifications in a flexible surface loop modulate the isozyme-specific properties of mammalian alkaline phosphatases
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Bossi M, Hoylaerts MF, Millan JL. Modifications in a flexible surface loop modulate the isozyme-specific properties of mammalian alkaline phosphatases. J Biol Chem. 1993;268:25409-25416.
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Bossi, M.1
Hoylaerts, M.F.2
Millan, J.L.3
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22
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19044367743
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Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene
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Taillandier A, Sallinen SL, Brun-Heath I, De Mazancourt P, Serre JL, Mornet E. Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene. J Clin Endocrinol Metab. 2005;90:2436-2439.
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J Clin Endocrinol Metab
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Taillandier, A.1
Sallinen, S.L.2
Brun-Heath, I.3
De Mazancourt, P.4
Serre, J.L.5
Mornet, E.6
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23
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0022968773
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Management of femoral fractures and pseudofractures in adult hypophosphatasia
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Coe JD, Murphy WA, Whyte MP. Management of femoral fractures and pseudofractures in adult hypophosphatasia. J Bone Joint Surg Am. 1986;68:981-990.
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(1986)
J Bone Joint Surg Am
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Coe, J.D.1
Murphy, W.A.2
Whyte, M.P.3
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24
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0020450679
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Circulating vitamin D metabolite levels in hypophosphatasia
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Whyte MP, Seino Y. Circulating vitamin D metabolite levels in hypophosphatasia. J Clin Endocrinol Metab. 1982;55:178-180.
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(1982)
J Clin Endocrinol Metab
, vol.55
, pp. 178-180
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Whyte, M.P.1
Seino, Y.2
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26
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0028806520
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Atypical osteomalacia after 2 year etidronate intermittent cyclic administration in osteoporosis
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Thomas T, Lafage MH, Alexandre C. Atypical osteomalacia after 2 year etidronate intermittent cyclic administration in osteoporosis. J Rheumatol. 1995;22:2183-2185.
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Thomas, T.1
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Alexandre, C.3
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27
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0000985304
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The possible significance of hexosephosphoric esters in ossification
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Robison R. The possible significance of hexosephosphoric esters in ossification. Biochem J. 1923;17:286-293.
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Biochem J
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Robison, R.1
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28
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0021719343
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Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: Results in three additional patients
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Whyte MP, McAlister WH, Patton LS, 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.
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J Pediatr
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Whyte, M.P.1
McAlister, W.H.2
Patton, L.S.3
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29
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0041805439
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Marrow cell transplantation for infantile hypophosphatasia
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Whyte MP, Kurtzberg J, McAlister WH, et al. Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res. 2003;18:624-636.
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(2003)
J Bone Miner Res
, vol.18
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Whyte, M.P.1
Kurtzberg, J.2
McAlister, W.H.3
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30
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33745044890
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Successful transplantation of infantile hypophosphatasia using bone fragments and cultured osteoblasts [abstract]
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Cahill R, Perlman S, Mumm S, McAlister WH, Whyte MP. Successful transplantation of infantile hypophosphatasia using bone fragments and cultured osteoblasts [abstract]. J Bone Miner Res. 2005;20(Suppl 1):S117.
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(2005)
J Bone Miner Res
, vol.20
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Cahill, R.1
Perlman, S.2
Mumm, S.3
McAlister, W.H.4
Whyte, M.P.5
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31
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33745035837
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Adult hypophosphatasia treated with teriparatide [abstract]
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Deal CL, Whyte MP. Adult hypophosphatasia treated with teriparatide [abstract]. J Bone Miner Res. 2005;20(Suppl 1):S100.
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(2005)
J Bone Miner Res
, vol.20
, Issue.SUPPL. 1
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Deal, C.L.1
Whyte, M.P.2
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32
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4243596481
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Dietary phosphate restriction therapy for hypophosphatasia: Preliminary observations [abstract]
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Wenkert D, Podgornik MN, Coburn SP, et al. Dietary phosphate restriction therapy for hypophosphatasia: preliminary observations [abstract]. J Bone Miner Res. 2002;17:S384.
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J Bone Miner Res
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Wenkert, D.1
Podgornik, M.N.2
Coburn, S.P.3
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33
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0031764923
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Coburn SP, Mahuren JD, Jain M, Zubovic Y, Wortsman J. Alkaline phosphatase (EC 3.1.3.1) in serum is inhibited by physiological concentrations of inorganic phosphate. J Clin Endocrinol Metab. 1998;83:3951-3957.
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Coburn SP, Mahuren JD, Jain M, Zubovic Y, Wortsman J. Alkaline phosphatase (EC 3.1.3.1) in serum is inhibited by physiological concentrations of inorganic phosphate. J Clin Endocrinol Metab. 1998;83:3951-3957.
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