Deletion of the Pyrophosphate Generating Enzyme ENPP1 Rescues Craniofacial Abnormalities in the TNAP−/− Mouse Model of Hypophosphatasia and Reveals FGF23 as a Marker of Phenotype Severity

Hypophosphatasia is a rare heritable metabolic disorder caused by deficient Tissue Non-specific Alkaline Phosphatase (TNAP) enzyme activity. A principal function of TNAP is to hydrolyze the tissue mineralization inhibitor pyrophosphate. ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1) is a...

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Main Authors: Hwa Kyung Nam (Author), Emmanouil Emmanouil (Author), Nan E. Hatch (Author)
Format: Book
Published: Frontiers Media S.A., 2022-04-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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