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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

BiologyPyridoxine-responsive SeizuresGeneticsInherited Metabolic DiseasePathogenesisInfantile HypophosphatasiaNovel Missense MutationsMedicineProtein PhosphorylationNeurogenetics