Article
Hypophosphatasia: A Unique Disorder of Bone Mineralization.
International journal of molecular sciences - 21 Apr 2021
Villa-Suárez Juan Miguel, García-Fontana Cristina, Andújar-Vera Francisco, González-Salvatierra Sheila, de Haro-Muñoz Tomás, Contreras-Bolívar Victoria, García-Fontana Beatriz, Muñoz-Torres Manuel
Abstract excerpt
Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tissue non-specific alkaline phosphatase (TNSALP). TNSALP is encoded by the ALPL gene, which is abundantly expressed in the skeleton, liver, kidney, and developing teeth. HPP exhibits high clinical variability largely due to the high allelic heterogeneity of the ALPL gene. HPP is characterized by multisystemic...
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