Article
Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene.
Frontiers in endocrinology - 1 Jan 2023
Martínez-Heredia Luis, Muñoz-Torres Manuel, Sanabria-de la Torre Raquel, Jiménez-Ortas Ángela, Andújar-Vera Francisco, González-Cejudo Trinidad, Contreras-Bolívar Victoria, González-Salvatierra Sheila, Gómez-Vida José María, García-Fontana Cristina, García-Fontana Beatriz
Abstract excerpt
Introduction: Hypophosphatasia (HPP) is an inborn metabolic error caused by mutations in the ALPL gene encoding tissue non-specific alkaline phosphatase (TNSALP) and leading to decreased alkaline phosphatase (ALP) activity. Although the main characteristic of this disease is bone involvement, it presents a great genetic and clinical variability, which makes it a systemic disease. Methods: Patients were recruited...
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