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Volumn 75, Issue , 2015, Pages 229-239

Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25years experience with 173 pediatric patients

Author keywords

Alkaline phosphatase; DXA; Inborn error of metabolism; Inorganic pyrophosphate; Mineralization; Rickets

Indexed keywords

AGE; AMERICAN; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BODY HEIGHT; BODY SIZE; BODY WEIGHT; BONE DENSITY; BONE DISEASE; CHILD; CLINICAL FEATURE; COMPLICATION; DEMOGRAPHY; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; DUAL ENERGY X RAY ABSORPTIOMETRY; FEMALE; GENE DOSAGE; GRIP STRENGTH; HIP; HUMAN; HYPOPHOSPHATASIA; MAJOR CLINICAL STUDY; MALE; MUTATION; PERIODONTAL DISEASE; PROGNOSIS; SPINE; STRENGTH; VALIDATION PROCESS; ADOLESCENT; GENETICS; INFANT; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

EID: 84925378783     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2015.02.022     Document Type: Article
Times cited : (197)

References (54)
  • 1
    • 84872480709 scopus 로고    scopus 로고
    • Hypophosphatasia
    • Elsevier (Academic Press), San Diego, CA, R.V. Thakker, M.P. Whyte, J. Eisman, T. Igarashi (Eds.)
    • Whyte M.P. Hypophosphatasia. Genetics of bone biology and skeletal disease 2013, 337-360. Elsevier (Academic Press), San Diego, CA. R.V. Thakker, M.P. Whyte, J. Eisman, T. Igarashi (Eds.).
    • (2013) Genetics of bone biology and skeletal disease , pp. 337-360
    • Whyte, M.P.1
  • 2
    • 84882522447 scopus 로고    scopus 로고
    • 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 M.P. 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
  • 3
    • 49749205640 scopus 로고
    • Excretion of inorganic pyrophosphate in hypophosphatasia
    • Russell R.G. Excretion of inorganic pyrophosphate in hypophosphatasia. Lancet 1965, 10:461-464.
    • (1965) Lancet , vol.10 , pp. 461-464
    • Russell, R.G.1
  • 4
    • 0015057271 scopus 로고
    • Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone
    • Russell R.G., Bisaz S., Donath A., Morgan D.B., 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
  • 5
    • 0014029045 scopus 로고
    • Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis
    • Fleisch H., Russell R.G., 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
  • 6
    • 0025856050 scopus 로고
    • Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: clinical and laboratory aspect
    • Caswell A.M., Whyte M.P., Russell R.G. Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: clinical and laboratory aspect. 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
  • 7
    • 0021811803 scopus 로고
    • Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism
    • Whyte M.P., Mahuren J.D., Vrabel L.A., Coburn S.P. Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. J Clin Invest 1985, 76:752-756.
    • (1985) J Clin Invest , vol.76 , pp. 752-756
    • Whyte, M.P.1    Mahuren, J.D.2    Vrabel, L.A.3    Coburn, S.P.4
  • 8
    • 0343083228 scopus 로고
    • Role of phosphatases in the regulation of vitamin B-6 metabolism in hypophosphatasia and other disorders
    • Alan R. Liss, New York, J.E. Leklem, R.D. Reynolds (Eds.)
    • Coburn S.P., Whyte M.P. Role of phosphatases in the regulation of vitamin B-6 metabolism in hypophosphatasia and other disorders. Clinical and physiological applications of vitamin B-6 1988, 65-93. Alan R. Liss, New York. J.E. Leklem, R.D. Reynolds (Eds.).
    • (1988) Clinical and physiological applications of vitamin B-6 , pp. 65-93
    • Coburn, S.P.1    Whyte, M.P.2
  • 9
    • 84897883412 scopus 로고    scopus 로고
    • Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters
    • Guañabens N., Mumm S., Möller I., González-Roca E., Peris P., Demertzis J.L., et al. Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters. J Bone Miner Res 2014, 29:929-934.
    • (2014) J Bone Miner Res , vol.29 , pp. 929-934
    • Guañabens, N.1    Mumm, S.2    Möller, I.3    González-Roca, E.4    Peris, P.5    Demertzis, J.L.6
  • 10
    • 34248573295 scopus 로고    scopus 로고
    • 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-Bürgi 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-Bürgi, S.4    Sergi, C.5    Ryan, L.6
  • 12
    • 0000034593 scopus 로고
    • 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
  • 14
    • 0018718890 scopus 로고
    • Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature
    • Whyte M.P., Teitelbaum S.L., Murphy W.A., Bergfeld M.A., Avioli L.V. 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
  • 15
    • 0019940289 scopus 로고
    • Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred
    • Whyte M.P., Murphy W.A., Fallon M.D. 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
  • 16
    • 0011322884 scopus 로고
    • A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia
    • Weiss M.J., Cole D.E., Ray K., Whyte M.P., Lafferty M.A., Mulivor R.A., et al. A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci U S A 1988, 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
  • 17
    • 0026713191 scopus 로고
    • Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia
    • Henthorn P.S., Raducha M., Fedde K.N., Lafferty M.A., Whyte M.P. 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 U S A 1992, 89:9924-9928.
    • (1992) Proc Natl Acad Sci U S A , vol.89 , pp. 9924-9928
    • Henthorn, P.S.1    Raducha, M.2    Fedde, K.N.3    Lafferty, M.A.4    Whyte, M.P.5
  • 18
    • 77950649672 scopus 로고    scopus 로고
    • University of Versailles-Saint Quentin, Yvelines, France, [cited 2014 July 4. Available from: ]
    • Mornet E. Tissue nonspecific alkaline phosphatase gene mutations database [internet] 2004, University of Versailles-Saint Quentin, Yvelines, France, [cited 2014 July 4. Available from: http://www.sesep.uvsq.fr/03_hypo_mutations.php/].
    • (2004) Tissue nonspecific alkaline phosphatase gene mutations database [internet]
    • Mornet, E.1
  • 19
    • 84906860668 scopus 로고    scopus 로고
    • Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia
    • Silvent J., Gasse B., Mornet E., Sire J.-Y. Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia. J Biol Chem 2014, 289:24168-24179.
    • (2014) J Biol Chem , vol.289 , pp. 24168-24179
    • Silvent, J.1    Gasse, B.2    Mornet, E.3    Sire, J.-Y.4
  • 21
    • 0001206301 scopus 로고
    • Hypophosphatasia
    • Fraser D. Hypophosphatasia. Am J Med 1957, 22:730-746.
    • (1957) Am J Med , vol.22 , pp. 730-746
    • Fraser, D.1
  • 23
    • 80053176676 scopus 로고    scopus 로고
    • Hypophosphatasia: non-lethal disease despite skeletal presentation in utero (17 new cases and literature review)
    • Wenkert D., McAlister W.H., Coburn S.P., Zerega J.A., Ryan L.M., Ericson K.L., 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
  • 24
    • 85047693142 scopus 로고
    • Fifty-year follow-up of hypophosphatasia
    • Weinstein R.S., Whyte M.P. Fifty-year follow-up of hypophosphatasia. Arch Intern Med 1981, 141:1720-1721.
    • (1981) Arch Intern Med , vol.141 , pp. 1720-1721
    • Weinstein, R.S.1    Whyte, M.P.2
  • 25
    • 33847748635 scopus 로고    scopus 로고
    • Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood
    • Khandwala H.M., Mumm S., Whyte M.P. 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
  • 26
    • 84859907817 scopus 로고    scopus 로고
    • "Atypical femoral fractures" during bisphosphonate exposure in adult hypophosphatasia
    • Sutton R.A.L., Mumm S., Coburn S.P., Ericson K.L., Whyte M.P. "Atypical femoral fractures" during bisphosphonate exposure in adult hypophosphatasia. J Bone Miner Res 2012, 27:987-994.
    • (2012) J Bone Miner Res , vol.27 , pp. 987-994
    • Sutton, R.A.L.1    Mumm, S.2    Coburn, S.P.3    Ericson, K.L.4    Whyte, M.P.5
  • 27
    • 34147099203 scopus 로고    scopus 로고
    • Adult hypophosphatasia treated with teriparatide
    • Whyte M.P., 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
  • 29
    • 0346850295 scopus 로고
    • Rickets, deficiency of "alkaline" phosphatase activity and premature loss of teeth in childhood
    • Sobel E.H., Clark L.C., Fox R.P., Robinow M. Rickets, deficiency of "alkaline" phosphatase activity and premature loss of teeth in childhood. Pediatrics 1953, 11:309-321.
    • (1953) Pediatrics , vol.11 , pp. 309-321
    • Sobel, E.H.1    Clark, L.C.2    Fox, R.P.3    Robinow, M.4
  • 30
    • 33745053865 scopus 로고    scopus 로고
    • 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 M.P., 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
  • 31
    • 84989558308 scopus 로고
    • Retrospective study of children with hypophosphatasia with reference to dental changes
    • Lundgren T., Westphal O., Bolme P., Modeer T., Noren J.G. 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
  • 33
    • 0019965925 scopus 로고
    • Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease
    • Whyte M.P., Valdes R., Ryan L.M., McAlister W.H. 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
  • 34
    • 0021719343 scopus 로고
    • Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients
    • Whyte M.P., McAlister W.H., Patton L.S., Magill H.L., Fallon M.D., Lorentz W.B., 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
  • 36
    • 34547743240 scopus 로고    scopus 로고
    • Infantile hypophosphatasia: trial of transplantation therapy using bone fragments and cultured osteoblasts
    • Cahill R.A., Wenkert D., Perlman S.A., Steele A., Coburn S.P., McAlister W.H., et al. Infantile hypophosphatasia: trial of transplantation therapy 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
  • 38
    • 0023897043 scopus 로고
    • Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase
    • Whyte M.P., Mahuren J.D., Fedde K.N., Cole F.S., McCabe E.R., Coburn S.P. Perinatal hypophosphatasia: tissue levels of vitamin B6 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
  • 40
    • 0001594259 scopus 로고    scopus 로고
    • Hypophosphatasia
    • McGraw-Hill Book Company, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, B. Vogelstein (Eds.)
    • Whyte M.P. Hypophosphatasia. The metabolic and molecular bases of inherited disease 2001, 5313-5329. McGraw-Hill Book Company, New York. 8th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, B. Vogelstein (Eds.).
    • (2001) The metabolic and molecular bases of inherited disease , pp. 5313-5329
    • Whyte, M.P.1
  • 41
    • 78349278017 scopus 로고    scopus 로고
    • Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schonberg Disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders
    • Whyte M.P., Kempa L.G., McAlister W.H., Zhang F., Mumm S., Wenkert D. Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schonberg Disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders. J Bone Miner Res 2010, 25:2515-2526.
    • (2010) J Bone Miner Res , vol.25 , pp. 2515-2526
    • Whyte, M.P.1    Kempa, L.G.2    McAlister, W.H.3    Zhang, F.4    Mumm, S.5    Wenkert, D.6
  • 42
    • 0344211873 scopus 로고    scopus 로고
    • Measuring normal hand dexterity values in normal 3-, 4-, and 5-year-old children and their relationship with grip and pinch strength
    • Lee-Valkov P.M., Aaron D.H., Eladoumikdachi F., Thornby J., Netscher D.T. Measuring normal hand dexterity values in normal 3-, 4-, and 5-year-old children and their relationship with grip and pinch strength. J Hand Ther 2003, 16:22-28.
    • (2003) J Hand Ther , vol.16 , pp. 22-28
    • Lee-Valkov, P.M.1    Aaron, D.H.2    Eladoumikdachi, F.3    Thornby, J.4    Netscher, D.T.5
  • 43
    • 0022796352 scopus 로고
    • Grip and pinch strength: norms for 6- to 19-year-olds
    • Mathiowetz V., Wiemer D.M., Federman S.M. Grip and pinch strength: norms for 6- to 19-year-olds. Am J Occup Ther 1986, 40:705-711.
    • (1986) Am J Occup Ther , vol.40 , pp. 705-711
    • Mathiowetz, V.1    Wiemer, D.M.2    Federman, S.M.3
  • 44
    • 0029666110 scopus 로고    scopus 로고
    • Cross-calibration of a fan-beam X-ray densitometer with a pencil-beam system
    • Bouyoucef S.E., Cullum I.D., Ell P.J. Cross-calibration of a fan-beam X-ray densitometer with a pencil-beam system. Br J Radiol 1996, 69:522-531.
    • (1996) Br J Radiol , vol.69 , pp. 522-531
    • Bouyoucef, S.E.1    Cullum, I.D.2    Ell, P.J.3
  • 45
    • 33751561194 scopus 로고    scopus 로고
    • Pediatric BMD reference database for U.S. white children
    • Kelly T.L., Specker B.L., Binkley T., et al. Pediatric BMD reference database for U.S. white children. Bone 2005, 36(Suppl. 1):30.
    • (2005) Bone , vol.36 , pp. 30
    • Kelly, T.L.1    Specker, B.L.2    Binkley, T.3
  • 46
    • 84864312849 scopus 로고    scopus 로고
    • Dual-energy X-ray absorptiometry interpretation: a simple equation for height correction in preteenage children
    • Zhang F., Whyte M.P., Wenkert D. Dual-energy X-ray absorptiometry interpretation: a simple equation for height correction in preteenage 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
  • 47
    • 0036353341 scopus 로고    scopus 로고
    • Denaturing gradient gel electrophoresis analysis of the tissue non-specific alkaline phosphatase isoenzyme gene in hypophosphatasia
    • Mumm S., Jones J., Finnegan P., Henthorn P., Podgornik M.N., Whyte M.P. Denaturing gradient gel electrophoresis analysis of the tissue non-specific alkaline phosphatase isoenzyme gene in hypophosphatasia. Mol Genet Metab 2002, 75:143-153.
    • (2002) Mol Genet Metab , vol.75 , pp. 143-153
    • Mumm, S.1    Jones, J.2    Finnegan, P.3    Henthorn, P.4    Podgornik, M.N.5    Whyte, M.P.6
  • 48
    • 84925364656 scopus 로고    scopus 로고
    • [internet] [cited 2014 June 1. Available from:
    • Annual Estimates of the Resident Population for the United States, Annual Estimates of the Resident Population for the United States, Regions States [internet] [cited 2014 June 1. Available from:. http://www.census.gov/popest/data/historical/2000s/vintage_2008/index.html.].
    • Regions, S.1
  • 52
    • 34147096126 scopus 로고    scopus 로고
    • 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 M.P. Hypophosphatasia: the c.1133A>T, p.D378V transversion is the most common American TNSALP mutation. J Bone Miner Res 2006, (Suppl. 1). [Abstract], [http://www.abstractsonline.com/viewer/viewAbstractPrintFriendly.asp?CKey={B11501E4-A3C4-43B3-9256-8570395E1277}&SKey={ACBF01A6-69A9-4204-8600-ADF1DDE684A3}&MKey={FC197A55-D8DD-4F3D-9994-290B64584CCB}&AKey={D0C01D4F-E23B-45E2-ACD4-0AF8AC866B8B}].
    • (2006) J Bone Miner Res
    • Mumm, S.1    Wenkert, D.2    Zhang, X.3    Geimer, M.4    Zerega, J.5    Whyte, M.P.6
  • 53
    • 84925364655 scopus 로고    scopus 로고
    • C.1250A>G, p.N417S is a common American TNSALP mutation involved in all clinical forms of hypophosphatasia (HPP), including pseudo-HPP
    • [Abstract]
    • Wenkert D., McAlister W.M., Mumm S., Whyte M.P. c.1250A>G, p.N417S is a common American TNSALP mutation involved in all clinical forms of hypophosphatasia (HPP), including pseudo-HPP. J Bone Miner Res 2008, (Suppl. 1). [Abstract], [http://www.abstractsonline.com/viewer/viewAbstractPrintFriendly.asp?CKey={54E5FA0D-4A7A-43FB-849C-FDCDD1829EFB}&SKey={3C52A7B3-7E9C-4FE5-9C40-A94007242039}&MKey={DCB70C83-5B38-431A-B0E1-9221D66718D0}&AKey={D0C01D4F-E23B-45E2-ACD4-0AF8AC866B8B}].
    • (2008) J Bone Miner Res
    • Wenkert, D.1    McAlister, W.M.2    Mumm, S.3    Whyte, M.P.4


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