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.
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C. Sergi | S. Mumm | M. Whyte | W. Högler | E. Haberlandt | S. Baumgartner-Sigl | S. Scholl‐Bürgi | L. Ryan | K. Ericson | S. Scholl-Bürgi