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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, Ericson KL, Whyte MP, Högler W. Baumgartner-Sigl S, et al. Among authors: whyte mp. Bone. 2007 Jun;40(6):1655-61. doi: 10.1016/j.bone.2007.01.020. Epub 2007 Feb 14. Bone. 2007. PMID: 17395561
Increased serum pyridoxal-5'-phosphate in pseudohypophosphatasia.
Cole DE, Salisbury SR, Stinson RA, Coburn SP, Ryan LM, Whyte MP. Cole DE, et al. Among authors: whyte mp. N Engl J Med. 1986 Apr 10;314(15):992-3. doi: 10.1056/NEJM198604103141515. N Engl J Med. 1986. PMID: 3960066 No abstract available.
Elevated plasma 4-pyridoxic acid in renal insufficiency.
Coburn SP, Reynolds RD, Mahuren JD, Schaltenbrand WE, Wang Y, Ericson KL, Whyte MP, Zubovic YM, Ziegler PJ, Costill DL, Fink WJ, Pearson DR, Pauly TA, Thampy KG, Wortsman J. Coburn SP, et al. Among authors: whyte mp. Am J Clin Nutr. 2002 Jan;75(1):57-64. doi: 10.1093/ajcn/75.1.57. Am J Clin Nutr. 2002. PMID: 11756060 Clinical Trial.
329 results