Article
Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology.
Bone - 1 May 2018
Whyte Michael P, Coburn Stephen P, Ryan Lawrence M, Ericson Karen L, Zhang Fan
Abstract excerpt
Hypophosphatasia (HPP) is the inborn-error-of-metabolism due to loss-of-function mutation(s) of the ALPL (TNSALP) gene that encodes the tissue non-specific isoenzyme of alkaline phosphatase (TNSALP). TNSALP represents a family of cell-surface phosphohydrolases differing by post-translational modification that is expressed especially in the skeleton, liver, kidney, and developing teeth. Thus, the natural...
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