-
1
-
-
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 et al (2007) 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 40:1655–1661
-
(2007)
Bone
, vol.40
, pp. 1655-1661
-
-
Baumgartner-Sigl, S.1
Haberlandt, E.2
Mumm, S.3
-
2
-
-
34547743240
-
Infantile hypophosphatasia: Transplantation therapy trial using bone fragments and cultured osteoblasts
-
Cahill RA, Wenkert D, Perlman SA et al (2007) Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts. J Clin Endocrinol Metab 92:2923–2930
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 2923-2930
-
-
Cahill, R.A.1
Wenkert, D.2
Perlman, S.A.3
-
3
-
-
0023441853
-
Infantile hypophos-phatasia–linkage with the RH locus
-
Chodirker BN, Evans JA, Lewis M et al (1987) Infantile hypophos-phatasia–linkage with the RH locus. Genomics 1:280–282
-
(1987)
Genomics
, vol.1
, pp. 280-282
-
-
Chodirker, B.N.1
Evans, J.A.2
Lewis, M.3
-
4
-
-
0025098098
-
Hyperphosphatemia in infantile hypophosphatasia: Implications for carrier diagnosis and screening
-
Chodirker BN, Evans JA, Seargeant LE, Cheang MS, Greenberg CR (1990) Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening. Am J Hum Genet 46:280–285
-
(1990)
Am J Hum Genet
, vol.46
, pp. 280-285
-
-
Chodirker, B.N.1
Evans, J.A.2
Seargeant, L.E.3
Cheang, M.S.4
Greenberg, C.R.5
-
5
-
-
84912481622
-
Renal rickets and dwarfism: A pituitary disease
-
Chown B (1936) Renal rickets and dwarfism: A pituitary disease. Br J Surg 23:552–556
-
(1936)
Br J Surg
, vol.23
, pp. 552-556
-
-
Chown, B.1
-
6
-
-
38949099010
-
Hypophosphatasia update: Recent advances in diagnosis and treatment
-
Cole DE (2008) Hypophosphatasia update: recent advances in diagnosis and treatment. Clin Genet 73:232–235
-
(2008)
Clin Genet
, vol.73
, pp. 232-235
-
-
Cole, D.E.1
-
7
-
-
0001206301
-
Hypophosphatasia
-
Fraser D (1957) Hypophosphatasia. Am J Med 22:730–746
-
(1957)
Am J Med
, vol.22
, pp. 730-746
-
-
Fraser, D.1
-
8
-
-
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 et al (1998) Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients. Hum Mutat Suppl 1:S263–7
-
(1998)
Hum Mutat Suppl
, vol.1
, pp. S263-S267
-
-
Goseki-Sone, M.1
Orimo, H.2
Iimura, T.3
-
9
-
-
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, Chodirker BN (1990) Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. Am J Hum Genet 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
Chodirker, B.N.7
-
10
-
-
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, Chodirker BN (1993) A homoallelic Gly317 → Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. Genomics 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
Chodirker, B.N.7
-
12
-
-
0023085116
-
Antenatal diagnosis of skeletal dysplasia using ultrasound
-
McGuire J, Manning F, Lange I, Lyons E, deSa DJ (1987) Antenatal diagnosis of skeletal dysplasia using ultrasound. Birth Defects Orig Artic Ser 23:367–384
-
(1987)
Birth Defects Orig Artic Ser
, vol.23
, pp. 367-384
-
-
McGuire, J.1
Manning, F.2
Lange, I.3
Lyons, E.4
Desa, D.J.5
-
13
-
-
0033615461
-
Mild autosomal dominant hypophosphatasia: In utero presentation in two families
-
Moore CA, Curry CJ, Henthorn PS et al (1999) Mild autosomal dominant hypophosphatasia: in utero presentation in two families. Am J Med Genet 86:410–415
-
(1999)
Am J Med Genet
, vol.86
, pp. 410-415
-
-
Moore, C.A.1
Curry, C.J.2
Henthorn, P.S.3
-
14
-
-
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 (2011) A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet 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
-
15
-
-
0033615462
-
Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: Bent but not broken
-
Pauli RM, Modaff P, Sipes SL, Whyte MP (1999) Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. Am J Med Genet 86:434–438
-
(1999)
Am J Med Genet
, vol.86
, pp. 434-438
-
-
Pauli, R.M.1
Modaff, P.2
Sipes, S.L.3
Whyte, M.P.4
-
16
-
-
0026053143
-
Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings
-
Shohat M, Rimoin DL, Gruber HE, Lachman RS (1991) Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings. Pediatr Radiol 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
-
17
-
-
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, Harris H (1988) A missense mutation in the human liver/bone/ kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci U S A 85:7666–7669
-
(1988)
Proc Natl Acad Sci U S A
, 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
Harris, H.7
-
18
-
-
80053176676
-
Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)
-
Wenkert D, McAlister WH, Coburn SP et al (2011) Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review). J Bone Miner Res 26:2389–2398
-
(2011)
J Bone Miner Res
, vol.26
, pp. 2389-2398
-
-
Wenkert, D.1
McAlister, W.H.2
Coburn, S.P.3
-
19
-
-
0027930471
-
Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization
-
Whyte MP (1994) Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev 15:439–461
-
(1994)
Endocr Rev
, vol.15
, pp. 439-461
-
-
Whyte, M.P.1
-
20
-
-
84863393533
-
Enzyme-replacement therapy in life-threatening hypophosphatasia
-
Whyte MP, Greenberg CR, Salman NJ et al (2012) Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med 366:904–913
-
(2012)
N Engl J Med
, vol.366
, pp. 904-913
-
-
Whyte, M.P.1
Greenberg, C.R.2
Salman, N.J.3
-
21
-
-
0041805439
-
Marrow cell transplantation for infantile hypophosphatasia
-
Whyte MP, Kurtzberg J, McAlister WH et al (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
-
22
-
-
84872480709
-
Hypophosphatasia
-
Thakker RV, Whyte MP, Eisman J, Igarashi T, Elsevier (Academic Press), San Diego
-
Whyte MP (2013) Hypophosphatasia. In: Thakker RV, Whyte MP, Eisman J, Igarashi T (eds) Genetics of bone biology and skeletal disease. Elsevier (Academic Press), San Diego, pp 327–360
-
(2013)
Genetics of Bone Biology and Skeletal Disease
, pp. 327-360
-
-
Whyte, M.P.1
|