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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.
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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.).
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Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters
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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.
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Leung E.C.W., Mhanni A.A., Reed M., Whyte M.P., Landy H., Greenberg C.R. Outcome of perinatal hypophosphatasia in Manitoba Mennonites: a retrospective cohort analysis. J Inherit Metab Dis Rep 2013, 11:73-78.
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A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia
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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.
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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.
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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
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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.
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Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schonberg Disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders
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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.
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