Results 1 to 10 of about 1,523 (155)
Growth and disease burden in children with hypophosphatasia [PDF]
Endocrine Connections, 2023 Objective: 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 ...
Wolfgang Högler +9 more
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Current Approaches in Management of Patients with Hypophosphatasia [PDF]
Педиатрическая фармакология, 2021 he authors present the latest data on the hypophosphatasia (HPP) management in children. Hypophosphatasia is a rare genetic disease caused by deficiency of tissue-specific alkaline phosphatase due to mutation in the ALPL gene.
Alexander A. Baranov +20 more
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Case Reports in Pediatrics, 2020 Infants presenting with multiple fractures without a plausible accident history need to be evaluated for child abuse or underlying predisposing conditions such as osteogenesis imperfecta and hypophosphatasia.
Kasra Zarei +4 more
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A Rare Case of Neonatal Hypophosphatasia: A Case Report [PDF]
Iranian Journal of Neonatology, 2018 Hypophosphatasia is a rare hereditary disorder of bone metabolism.In this article, we presented the case of a male infant with a soft skull and short, deformed limbs at birth, followed by seizures and respiratory distress during admission in the neonatal
Nasim Pouralizadeh +2 more
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Journal of Medical Case Reports, 2019 Background Hypophosphatasia is an inherited bone disease characterized by low alkaline phosphatase activity encoded by ALPL. Clinically, hypophosphatasia can be categorized as perinatal, infantile, childhood, and adult forms, as well as odonto ...
Kazunori Fukushima +8 more
doaj +2 more sources
Molecular Therapy: Methods & Clinical Development, 2018 Hypophosphatasia is an inherited disease caused by mutations in the gene encoding tissue-nonspecific alkaline phosphatase (TNALP), the major symptom of which is hypomineralization of the bones and teeth. We had recently demonstrated that TNALP-deficient (
Ryo Ikeue +6 more
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First Reported Case of a Pyrophosphate Kidney Stone in a Human
Case Reports in Nephrology and Dialysis, 2023 Urolithiasis composed of pyrophosphate salts has only been reported in animals, in the form of potassium magnesium pyrophosphate. However, there have been no reports of pyrophosphate stones in humans.
Michael R. Gigax +5 more
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Bone Reports, 2022 Asfotase alfa is a human recombinant enzyme replacement therapy for hypophosphatasia. We describe 6 adults who were treated with asfotase alfa for 61–68 months in a clinical trial (NCT01163149), after which asfotase alfa was discontinued for 15–48 months.
Cheryl Rockman-Greenberg +3 more
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Dental loss, stress fractures, and musculoskeletal pain in a 48‐year‐old woman
Clinical Case Reports, 2023 We report a 48‐year‐old female patient with various stress fractures of extremities, musculoskeletal pain, and tooth loss. Hypophosphatasia was diagnosed based on clinical and laboratory findings and ALPL genetic results.
Lindsay T. Hoang +4 more
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Short stature with low serum alkaline phosphatase activity: a case report of hypophosphatasia [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2023 Hypophosphatasia (HPP) is a rare condition characterized by abnormal bone mineralization. The manifestations of HPP vary from no symptoms to intrauterine fetal death; short stature is another indication of HPP.
Donghyun Lee +3 more
doaj +1 more source