Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene
Luis Martínez-Heredia,
Manuel Muñoz-Torres,
Raquel Sanabria-de la Torre
et al.
Abstract:IntroductionHypophosphatasia (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.MethodsPatients were recruited based on biochemical assessments. Diagnosis was made by measuring serum ALP and pyridoxal 5-phosphate le… Show more
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