Hypophosphatasia (HPP) is an inherited metabolic disease caused by loss-of-function
mutations in the tissue non-specific alkaline phosphatase (TNAP) gene. Reduced activity of …

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 …

Circulating metabolite levels may reflect the state of the human organism in health and
disease, however, the genetic architecture of metabolites is not fully understood. We have …

Background Tissue-nonspecific alkaline phosphatase (TNSALP) encoded by the ALPL gene
is of particular importance for bone mineralization. Mutation in the ALPL gene can lead to …

Objectives Since the prevalence of hypophosphatasia (HPP), a rare genetic disease, seems
to be underestimated in clinical practice, in this study, a new diagnostic algorithm to identify …

ABSTRACT X‐linked hypophosphatemia (XLH), a dominant disorder caused by pathogenic
variants in the PHEX gene, affects both sexes of all ages and results in elevated serum …

Hypophosphatasia (HPP), also called Rathbun disease, is a rare genetic disorder that is
caused by the loss-of-function mutation in the ALPL gene encoding tissue non-specific …

Exposure to particulate matter (PM) is one of the most important environmental issues in
Europe with major health impact. Various sizes of PM are suspended in the atmosphere and …

Background The most frequent manifestation in adult hypophosphatasia (HPP) is
musculoskeletal pain. The unspecific nature of its clinical presentation may prevent correct …

Background Hypophosphatasia (HPP) is a rare and underdiagnosed condition
characterized by deficient bone and teeth mineralization. The aim of this study was first, to …