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
Title:
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
Author:
Baumgartner-Sigl, Sara Haberlandt, Edda Mumm, Steven Scholl-Bürgi, Sabine Sergi, Consolato Ryan, Lawrence Ericson, Karen L. Whyte, Michael P. Högler, Wolfgang