Hypophosphatasia
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 …
mutations in the tissue non-specific alkaline phosphatase (TNAP) gene. Reduced activity of …
Hypophosphatasia: a unique disorder of bone mineralization
JM Villa-Suárez, C García-Fontana… - International Journal of …, 2021 - mdpi.com
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 …
activity of tissue non-specific alkaline phosphatase (TNSALP). TNSALP is encoded by the …
Whole-genome sequencing analysis of human metabolome in multi-ethnic populations
EV Feofanova, MR Brown, T Alkis, AM Manuel… - nature …, 2023 - nature.com
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 …
disease, however, the genetic architecture of metabolites is not fully understood. We have …
Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?
T Schmidt, C Schmidt, M Amling, J Kramer… - Orphanet Journal of …, 2021 - Springer
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 …
is of particular importance for bone mineralization. Mutation in the ALPL gene can lead to …
Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases
T González-Cejudo, JM Villa-Suárez… - Clinical Chemistry and …, 2024 - degruyter.com
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 …
to be underestimated in clinical practice, in this study, a new diagnostic algorithm to identify …
Molecular diagnoses of X‐linked and other genetic hypophosphatemias: Results from a sponsored genetic testing program
ET Rush, B Johnson, S Aradhya… - Journal of Bone and …, 2020 - academic.oup.com
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 …
variants in the PHEX gene, affects both sexes of all ages and results in elevated serum …
[HTML][HTML] Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia
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 …
caused by the loss-of-function mutation in the ALPL gene encoding tissue non-specific …
[HTML][HTML] Unraveling the blood transcriptome after real-life exposure of Wistar-rats to PM2. 5, PM1 and water-soluble metals in the ambient air
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 …
Europe with major health impact. Various sizes of PM are suspended in the atmosphere and …
Identifying adult hypophosphatasia in the rheumatology unit
J Feurstein, M Behanova, J Haschka, K Roetzer… - Orphanet Journal of …, 2022 - Springer
Background The most frequent manifestation in adult hypophosphatasia (HPP) is
musculoskeletal pain. The unspecific nature of its clinical presentation may prevent correct …
musculoskeletal pain. The unspecific nature of its clinical presentation may prevent correct …
Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia
C Tornero, V Navarro-Compán, A Buño… - Orphanet Journal of …, 2022 - Springer
Background Hypophosphatasia (HPP) is a rare and underdiagnosed condition
characterized by deficient bone and teeth mineralization. The aim of this study was first, to …
characterized by deficient bone and teeth mineralization. The aim of this study was first, to …