Neurological and Neurosurgical Aspects of Hypophosphatasia

• Main Authors: Vadim P. Ivanov (Author), Leonid A. Satanin (Author), Alexander V. Kim (Author), Ludmila M. Kuzenkova (Author), Tea V. Margieva (Author), Sofia G. Popovich (Author)
• Format: Book
• Published: Union of pediatricians of Russia, 2018-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Hypophosphatasia is a rare hereditary progressive disease caused by a mutation in ALPL gene and characterized by low activity of alkaline phosphatase. Due to the disruption of the bone mineralization process, ricket-like deformations of the skeleton occur in the clinic picture more frequently but ot...