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Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures

Marieke G A de Roo1, Nico G G M Abeling2, Charles B Majoie3

  • 1Department of Pediatric Neurology, Clinical Genetics, Metabolic Disorders, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

Molecular Genetics and Metabolism
|October 9, 2013
PubMed

Keywords:
Alkaline phosphataseEncephalopathyHypophosphatasiaPyridoxine therapyTherapy resistant seizures

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