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
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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
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
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Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia [PDF]
The Journal of Clinical Endocrinology & Metabolism, 2016 Hypophosphatasia (HPP) is an inborn error of metabolism that, in its most severe perinatal and infantile forms, results in 50-100% mortality, typically from respiratory complications.Our objective was to better understand the effect of treatment with asfotase alfa, a first-in-class enzyme replacement therapy, on mortality in neonates and infants with ...
Michael P, Whyte +8 more
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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
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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
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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
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Clinical application experience of asfotase alfa for a young patient with childhood hypophosphatasia
Остеопороз и остеопатии, 2019 Hypophosphatasia (HPP) is a rare hereditary metabolic disease characterized by defective bone and dental mineralization, systemic complications that lead to disability of patients.
Nataliya Y. Kalinchenko +5 more
doaj +1 more source
Emerging therapies for the treatment of rare pediatric bone disorders
Frontiers in Pediatrics, 2022 In recent years, new therapies for the treatment of rare pediatric bone disorders have emerged, guided by an increasing understanding of the genetic and molecular etiology of these diseases.
Kathryn M. Thrailkill +2 more
doaj +1 more source
Pyridoxal 5′-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy [PDF]
, 2018 Objective To investigate the utility of serum pyridoxal 5′-phosphate (PLP), pyridoxal (PL), and 4-pyridoxic acid (PA) as a diagnostic marker of hypophosphatasia (HPP) and an indicator of the effect of, and patient compliance with, enzyme replacement ...
Akiyama, Tomoyuki +18 more
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