Hypophosphatasia (/ˌhaɪpoʊˈfɒsfeɪtˌeɪʒə/; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, or Rathbun's syndrome; sometimes abbreviated...
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the treatment of people with perinatal/infantile- and juvenile-onset hypophosphatasia. The most common side effects include injection site reactions, hypersensitivity...
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nocturnal hemoglobinuria (PNH); asfotase alfa (Strensiq), used to treat hypophosphatasia; sebelipase alfa (Kanuma), used to treat lysosomal acid lipase deficiency...
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state. This enzyme has been linked directly to a disorder known as hypophosphatasia, a disorder that is characterized by low serum ALP and undermineralised...
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particularly relevant to the osteomalacia and odontomalacia observed in hypophosphatasia (HPP) and X-linked hypophosphatemia (XLH). The most common cause of...
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syndrome) Fracture Giant cell tumor of bone Greenstick fracture Gout Hypophosphatasia Hereditary multiple exostoses Klippel–Feil syndrome Metabolic bone...
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of cartilage glycosaminoglycans Hyperparathyroidism Hemochromatosis Hypophosphatasia Hypomagnesemia Hydroxyapatite deposition: Tissue damage Hyperparathyroidism...
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renal osteodystrophy, osteogenesis imperfecta, fibrous dysplasia, and hypophosphatasia. Looser zones are named after Emil Looser, a Swiss physician. A band...
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It is a feature of conditions such as cleidocranial dysplasia and hypophosphatasia. Ireland R (25 March 2010). A Dictionary of Dentistry. Oxford University...
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vitamin D or calcium Diseases causing soft bones in infants, like hypophosphatasia or hypophosphatemia, can also lead to rickets. Strontium is allied...
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conditions or diseases may lead to reduced levels of alkaline phosphatase: Hypophosphatasia, a genetic disorder Women receiving estrogen therapy for menopausal...
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"A Case of Spondylodysplastic Ehlers–Danlos Syndrome With Comorbid Hypophosphatasia". AACE Clinical Case Reports. 8 (6): 255–258. doi:10.1016/j.aace.2022...
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wasting, both cause osteomalacia and odontomalacia. For both XLH and hypophosphatasia, inhibitor-enzyme pair relationships function to regulate mineralization...
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syndrome Cardio-facio-cutaneous syndrome Catel-Manzke syndrome Childhood hypophosphatasia Chondrodysplasia with joint dislocations, gPAPP type Cloverleaf skull...
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"Kinky-hair" Menke's syndrome Cleidocranial dysostosis Hypothyroidism and hypophosphatasia Otopalatodigital syndrome Primary acro-osteolysis Down syndrome Wormian...
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PMID 34307793. Nunes ME (1993). "Hypophosphatasia". GeneReviews®. University of Washington, Seattle. PMID 20301329. "Hypophosphatasia Case Studies: Dangers of...
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syndrome, Heimler syndrome & Ellis-Van Creveld syndrome, Down syndrome, Hypophosphatasia, Regional odontodysplasia, Cleft lip and palate, Vitamin D-resistant...
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is found in hypothyroidism, pernicious anemia, zinc deficiency, and hypophosphatasia. ALP activity is significantly increased in the third trimester of...
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hyperparathyroidism Arthritis Pseudogout Wilson disease Hemochromatosis Ochronosis Hypophosphatasia Hypothyroidism Hyperoxalemia Acromegaly Gitelman syndrome Chondrocalcinosis...
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and to confirm an elevated level of vitamin B6 with an absence of hypophosphatasia. Examination does not typically show signs of a motor deficit, dysfunction...
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deficiency, PLP binding protein deficiency, hyperprolinaemia type II and hypophosphatasia) can trigger vitamin B6 deficiency-dependent epileptic seizures in...
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stature Hypoparathyroidism X linked Hypoparathyroidism Hypophosphatasia, infantile Hypophosphatasia Hypophosphatemic rickets Hypopigmentation oculocerebral...
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C1868570)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05. "Childhood hypophosphatasia (Concept Id: C0220743) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved...
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malnutrition, as well as rare skeletal syndromes such as Bruck syndrome, hypophosphatasia, geroderma osteodysplasticum, and Ehlers–Danlos syndrome.: 1513 : 253–256 ...
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epoxidase, an enzyme Hypokalemic periodic paralysis, a muscle disease Hypophosphatasia, a bone disease Hypoxia preconditioned plasma Hardy-Pomeau-Pazzis model...
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Asfotase alfa Alexion Pharmaceuticals perinatal/infantile/childhood hypophosphatasia Osimertinib AstraZeneca EGFR-positive NSCLC Daratumumab Janssen Biotech...
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Xuriden Orotic aciduria Wellstat Therapeutics Rare pediatric Strensiq Hypophosphatasia Alexion Pharmaceuticals Rare pediatric Kanuma Lysosomal acid lipase...
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particularly relevant to the osteomalacia and odontomalacia observed in hypophosphatasia and X-linked hypophosphatemia. Mutation of PHEX leads to X-linked hypophosphatemia...
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particularly relevant to the osteomalacia and odontomalacia observed in hypophosphatasia and X-linked hypophosphatemia. Along with its role in the regulation...
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275.3 Disorders of phosphorus metabolism Familial hypophosphatemia Hypophosphatasia 275.4 Disorders of calcium metabolism 275.41 Hypocalcemia 275.42 Hypercalcemia...
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