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 …

Hypophosphatasia (HPP) is a rare inherited disorder characterized by defective bone
mineralization and is highly variable in its clinical phenotype. The disease occurs due to …

Hypophosphatasia (HPP) is an inherited disease caused by ALPL mutation, resulting in
decreased alkaline phosphatase (ALP) activity and damage to bone and tooth …

The goal of this study was to perform a clinical and molecular investigation in an eight-year-
old female child diagnosed with hypophosphatasia (HPP). The proband and her family were …

Background Hypophosphatasia (HPP), a rare metabolic disease, can be inherited in an
autosomal recessive (biallelic) or an autosomal dominant (monoallelic) manner. Most of the …

Objective Hypophosphatasia (HPP) is a rare disease characterized by incomplete or
defective bone mineralization due to a mutation in the alkaline phosphatase (ALP) gene …

Using genetic, clinical, biochemical, and radiographic assessment and bioinformatic
approaches, we present an unusual case of adult HPP caused by a novel de novo …

Hypophosphatasia (HPP) is a metabolic inborn error caused by mutations in the ALPL gene
encoding tissue non-specific alkaline phosphatase (TNSALP) leading to a decreased …

Hypophosphatasia (HPP) a rare disease caused by mutations in the ALPL gene encoding
for the tissue-nonspecific alkaline phosphatase protein (TNSALP), has been identified as a …

Background: Phosphorus is one of the major macronutrient essential for normal growth and
development of living organisms. Alkaline phosphatase (ALP) is an enzyme present in …