Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report

@inproceedings{Demirbilek2012HypophosphatasiaPW,
  title={Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report},
  author={H{\"u}seyin Demirbilek and Yasemin Alanay and Ayfer Alikaşifoğlu and M Fatih Topçu and Etienne Mornet and Alev {\"O}z{\"o}n and Nurg{\"u}n Kandemir},
  booktitle={Journal of clinical research in pediatric endocrinology},
  year={2012}
}
Hypophosphatasia (HPP) is an inborn error of metabolism characterized by defective bone mineralization caused by a deficiency in alkaline phosphatase (ALP) activity due to mutations in the tissue-nonspecific ALP (TNALP) gene. The clinical expression of the disease is variable. Six forms of HPP are identified according to age at presentation and clinical features. Patients with the infantile form are normal at birth. First symptoms appear within the first 6 months of life. Along with skeletal… CONTINUE READING
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