MeSH Review:
Hypophosphatasia
Morava,
Kárteszi,
Weisenbach,
Caliebe,
Mundlos,
Méhes,
Coburn,
Reynolds,
Mahuren,
Schaltenbrand,
Wang,
Ericson,
Whyte,
Zubovic,
Ziegler,
Costill,
Fink,
Pearson,
Pauly,
Thampy,
Wortsman,
Whyte,
Kurtzberg,
McAlister,
Mumm,
Podgornik,
Coburn,
Ryan,
Miller,
Gottesman,
Smith,
Douville,
Waters-Pick,
Armstrong,
Martin,
Kawada,
Kashima,
Shiraishi,
Gomi,
Matsuo,
Yasuda,
Sasaki,
Sato,
Orimo,
Luong,
Nguyen,
Ea,
Blanchard,
Dougados,
Roux,
Fedde,
Michell,
Henthorn,
Whyte,
- Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization. Hessle, L., Johnson, K.A., Anderson, H.C., Narisawa, S., Sali, A., Goding, J.W., Terkeltaub, R., Millan, J.L. Proc. Natl. Acad. Sci. U.S.A. (2002)
- Hypophosphatasia: levels of bone alkaline phosphatase immunoreactivity in serum reflect disease severity. Whyte, M.P., Walkenhorst, D.A., Fedde, K.N., Henthorn, P.S., Hill, C.S. J. Clin. Endocrinol. Metab. (1996)
- An alternatively spliced surfactant protein B mRNA in normal human lung: disease implication. Lin, Z., Wang, G., Demello, D.E., Floros, J. Biochem. J. (1999)
- Relationship between serum alkaline phosphatase and pyridoxal-5'-phosphate levels in hypophosphatasia. Iqbal, S.J., Brain, A., Reynolds, T.M., Penny, M., Holland, S. Clin. Sci. (1998)
- Chondrocalcinosis secondary to hypomagnesemia in Gitelman's syndrome. Ea, H.K., Blanchard, A., Dougados, M., Roux, C. J. Rheumatol. (2005)
- 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, M.P., Landt, M., Ryan, L.M., Mulivor, R.A., Henthorn, P.S., Fedde, K.N., Mahuren, J.D., Coburn, S.P. J. Clin. Invest. (1995)
- 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. J. Clin. Invest. (1988)
- 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. J. Clin. Invest. (1985)
- The urinary excretion of phosphoethanolamine in diseases other than hypophosphatasia. Licata, A.A., Radfar, N., Bartter, F.C., Bou, E. Am. J. Med. (1978)
- Elevated plasma 4-pyridoxic acid in renal insufficiency. Coburn, S.P., Reynolds, R.D., Mahuren, J.D., Schaltenbrand, W.E., Wang, Y., Ericson, K.L., Whyte, M.P., Zubovic, Y.M., Ziegler, P.J., Costill, D.L., Fink, W.J., Pearson, D.R., Pauly, T.A., Thampy, K.G., Wortsman, J. Am. J. Clin. Nutr. (2002)
- Normal activity of nucleoside triphosphate pyrophosphatase in alkaline phosphatase-deficient fibroblasts from patients with infantile hypophosphatasia. Caswell, A.M., Whyte, M.P., Russell, R.G. J. Clin. Endocrinol. Metab. (1986)
- Alkaline phosphatase deficiency in cultured skin fibroblasts from patients with hypophosphatasia: comparison of the infantile, childhood, and adult forms. Whyte, M.P., Vrabel, L.A., Schwartz, T.D. J. Clin. Endocrinol. Metab. (1983)
- 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., Harris, H. Proc. Natl. Acad. Sci. U.S.A. (1988)
- Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia. Fedde, K.N., Michell, M.P., Henthorn, P.S., Whyte, M.P. J. Clin. Endocrinol. Metab. (1996)
- Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. Morava, E., Kárteszi, J., Weisenbach, J., Caliebe, A., Mundlos, S., Méhes, K. Eur. J. Pediatr. (2002)
- Pyridoxine-induced photosensitivity and hypophosphatasia. Kawada, A., Kashima, A., Shiraishi, H., Gomi, H., Matsuo, I., Yasuda, K., Sasaki, G., Sato, S., Orimo, H. Dermatology (Basel) (2000)
- Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia. Weiss, M.J., Ray, K., Fallon, M.D., Whyte, M.P., Fedde, K.N., Lafferty, M.A., Mulivor, R.A., Harris, H. Am. J. Hum. Genet. (1989)
- Marrow cell transplantation for infantile hypophosphatasia. Whyte, M.P., Kurtzberg, J., McAlister, W.H., Mumm, S., Podgornik, M.N., Coburn, S.P., Ryan, L.M., Miller, C.R., Gottesman, G.S., Smith, A.K., Douville, J., Waters-Pick, B., Armstrong, R.D., Martin, P.L. J. Bone Miner. Res. (2003)
- Prenatal diagnosis of hypophosphatasia. Kousseff, B.G., Mulivor, R.A. Obstetrics and gynecology. (1981)
- Adult hypophosphatasia and a low level of red blood cell thiamine pyrophosphate. Luong, K.V., Nguyen, L.T. Ann. Nutr. Metab. (2005)
- Neutrophil alkaline phosphatase (NAP) score in the diagnosis of hypophosphatasia. Iqbal, S.J., Davies, T., Cole, R., Whitaker, P., Chapman, C. Clin. Chim. Acta (2000)
- A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. Greenberg, C.R., Taylor, C.L., Haworth, J.C., Seargeant, L.E., Philipps, S., Triggs-Raine, B., Chodirker, B.N. Genomics (1993)
- Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia. Fedde, K.N., Blair, L., Silverstein, J., Coburn, S.P., Ryan, L.M., Weinstein, R.S., Waymire, K., Narisawa, S., Millán, J.L., MacGregor, G.R., Whyte, M.P. J. Bone Miner. Res. (1999)
- Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals. Anderson, H.C., Hsu, H.H., Morris, D.C., Fedde, K.N., Whyte, M.P. Am. J. Pathol. (1997)