Hypophosphatasia: A Unique Disorder of Bone Mineralization

Hypophosphatasia: A Unique Disorder of Bone Mineralization

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 <i>ALPL</i> gene, which is abundantly expressed in the skeleton, liver, kidney, and developing teeth. HPP exhibits h...

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Bibliographic Details
Main Authors: Juan Miguel Villa-Suárez, Cristina García-Fontana, Francisco Andújar-Vera, Sheila González-Salvatierra, Tomás de Haro-Muñoz, Victoria Contreras-Bolívar, Beatriz García-Fontana, Manuel Muñoz-Torres
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:International Journal of Molecular Sciences
Subjects:
hypophosphatasia
TNSALP
pyridoxal-5′-phosphate
genotype-phenotype
asfotase alfa
Online Access:https://www.mdpi.com/1422-0067/22/9/4303

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https://www.mdpi.com/1422-0067/22/9/4303

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