SUN-349 Characterizing Functional Performance in Adults with Hypophosphatasia
نویسندگان
چکیده
منابع مشابه
A clinical and research protocol for characterizing patients with hypophosphatasia.
H ypophosphatasia is a rare inherited disorder characterized by a wide spectrum of defects in mineralized tissues. The disease is usually inherited as an autosomal recessive trait with a prevalence of approximately 1/100,000 live births. 1 The clinical manifestations are highly variable, ranging from an almost total lack of skeletal formation to the premature loss of the permanent anterior teet...
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متن کاملMyopathy with hypophosphatasia.
Three children with hypophosphatasia also had muscle pains, stiffness, and symptoms of proximal lower limb muscle weakness that occurred early in the disorder and were the presenting features in two. A non-progressive myopathy may be an important sign of hypophosphatasia.
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Purpose: To assess the reliability of neurocognitive and functional performance tests in athletes with and without functional ankle instability (FAI). Methods: In this methodological study, 20 athletes with unilateral functional ankle instability (mean age [SD]: 23.40[2.58] y; mean height[SD]: 1.77[0.11] m; mean weight[SD]: 67.00[13.18] kg) and 20 uninjured athletes (mean age[SD]: 23.05[2.72] ...
متن کاملHypophosphatasia
Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The prevalence of severe forms of the disease has been estimated at 1/100 000. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early loss of teeth without bo...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2020
ISSN: 2472-1972
DOI: 10.1210/jendso/bvaa046.440