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
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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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Odontohypophosphatasia treated with asfotase alfa enzyme replacement therapy in a toddler: a case report. [PDF]
Clin Pediatr Endocrinol, 2020 Hypophosphatasia (HPP) is a rare skeletal disorder caused by loss-of-function mutations in Alkaline Phosphatase, Biomineralization associated (ALPL) gene that encodes tissue-nonspecific alkaline phosphatase. Odontohypophosphatasia (odonto-HPP), a mild form of HPP, is characterized only by oral manifestations including premature exfoliation of deciduous
Takagi M +7 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
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Dual X-ray absorptiometry has limited utility in detecting bone pathology in children with hypophosphatasia: A pooled post hoc analysis of asfotase alfa clinical trial data [PDF]
, 2020 Asfotase alfa is an enzyme replacement therapy approved for treatment of patients with pediatric-onset hypophosphatasia (HPP), a rare, inherited, systemic disease causing impaired skeletal mineralization, short stature, and reduced physical function in ...
Simmons, Jill H. +4 more
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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
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Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study. [PDF]
J Clin Endocrinol Metab, 2019 CONTEXT: Long-term data on enzyme replacement treatment of hypophosphatasia (HPP) are limited.OBJECTIVE: To evaluate efficacy and safety of asfotase alfa in patients aged ≤5 years with HPP followed for up to 6 years.DESIGN: Phase 2 open-label study (July
Hofmann CE +11 more
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Neuroscience ResearchThis study assessed whether asfotase alfa treatment in Akp2-/- mice (a model of hypophosphatasia) reversibly normalizes GABA and cystathionine in brain tissue to concentrations in wild-type mice.
Kathryn N. Phoenix +7 more
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Impact of pediatric hypophosphatasia on behavioral health and quality of life
Orphanet Journal of Rare Diseases, 2021 Background Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in the ALPL gene encoding tissue nonspecific alkaline phosphatase.
Elizabeth I. Pierpont +4 more
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Pathways to enhancing prenatal diagnosis of skeletal dysplasias
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang +4 more
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