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

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

Research output: Contribution to journal › Article › peer-review

155 Scopus citations

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology