Current concepts in odontohypophosphatasia form of hypophosphatasia and report of two cases [PDF]
, 2016 published_or_final_versio
Qiao, W +4 more
core +1 more source
Mendelian Randomization Identifies the Potential Causal Impact of Dietary Patterns on Circulating Blood Metabolites [PDF]
, 2021 Nutrition plays an important role in the development and progress of several health conditions, but the exact mechanism is often still unclear. Blood metabolites are likely candidates to be mediating these relationships, as their levels are strongly ...
Andres Metspalu +11 more
core +3 more sources
Gene therapy using recombinant AAV type 8 vector encoding TNAP-D10 improves the skeletal phenotypes in murine models of osteomalacia [PDF]
, 2022 Hypophosphatasia (HPP), caused by loss‐of‐function mutations in the ALPL gene encoding tissue‐nonspecific alkaline phosphatase (TNAP), is characterized by skeletal and dental hypomineralization that can vary in severity from life‐threatening to milder ...
Amadeu De Oliveira, Flavia +7 more
core +2 more sources
Pharmacodynamics of asfotase alfa in adults with pediatric-onset hypophosphatasia
Bone, 2021 Hypophosphatasia (HPP) is the rare, inherited, metabolic bone disease characterized by low activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) leading to excess extracellular inorganic pyrophosphate (PPi) and pyridoxal 5'-phosphate (PLP). Asfotase alfa is the human recombinant enzyme-replacement therapy that replaces deficient
Lothar, Seefried +6 more
openaire +2 more sources
Growth and disease burden in children with hypophosphatasia [PDF]
, 2023 Hypophosphatasia, an inborn error of metabolism characterized by impaired bone mineralization, can affect growth. This study evaluated relationships between anthropometric parameters (height, weight, and body mass index) and clinical manifestations of ...
Dahir, Kathryn +9 more
core +2 more sources
Modern Approaches to the Management of Children with Hypophosphatasia
Педиатрическая фармакология, 2023 Hypophosphatasia is rare genetic disease caused by tissue-nonspecific alkaline phosphatase deficiency due to the mutation in the ALPL gene. Disease can manifest in utero, in childhood or in adults depending on its form and severity. This article presents
Aleksander A. Baranov +22 more
doaj +1 more source
Effect of Asfotase Alfa on Muscle Weakness in a Japanese Adult Patient of Hypophosphatasia with Low ALP Levels. [PDF]
Intern Med, 2020 Koyama H +13 more
europepmc +2 more sources
Medical Cannabinoids as Treatment for Hypophosphatasia-Related Symptoms [PDF]
, 2022 Background: Hypophosphatasia (HPP) is a rare congenital disease caused by a mutation affecting tissue non-specific alkaline phosphatase, an enzyme involved in phosphate metabolism. The clinical manifestation usually includes bone-mineralization disorders,
Blakeslee, Sarah Beverly +3 more
core +1 more source
Clinical Case Reports, 2020 The most frequent dental signs of hypophosphatasia in children are premature loss of primary teeth, decrease in height of alveolar bone, and malocclusions.
Larisa Kiselnikova +2 more
doaj +1 more source
Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa [PDF]
Hypophosphatasia (HPP) is a rare disorder, resulting from loss-of-function variants of the ALPL gene encoding non-tissue specific alkaline phosphatase (TNSALP).
Demirdas, Serwet +5 more
core +4 more sources