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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. Bone. 2007 Jun;40(6):1655-61. doi: 10.1016/j.bone.2007.01.020. Epub 2007 Feb 14. Bone. 2007. PMID: 17395561
142 results