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Hypophosphatasia: a rare bone disease: Comparison
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Please note this is a comparison between Version 2 by Conner Chen and Version 1 by Cristina García-Fontana.

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 complications, although the most common clinical manifestations are those that occur in the skeleton, muscles, and teeth. These complications are mainly due to the accumulation of inorganic pyrophosphate (PPi) and pyridoxal-5′-phosphate (PLP).

  • hypophosphatasia
  • TNSALP
  • pyridoxal-5′-phosphate
  • asfotase alfa
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