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hypophosphatasia

   Also found in: Wikipedia 0.14 sec.
hypophosphatasia /hy·po·phos·pha·ta·sia/ (-fos″fah-ta´zhah) an inborn error of metabolism with abnormally low serum alkaline phosphatase activity and phosphoethanolamine in the urine, most severe in babies before six months. Affected infants and children have rickets and adults have osteomalacia.
hy·po·phos·pha·ta·sia (hp-fsf-tzh)
n.
An abnormally low concentration of alkaline phosphatase in the blood.

hypophosphatasia
[hī′pōfos′fətā′zhə]
Etymology: Gk, hypo + phosphoros, lightbearing
congenital absence of alkaline phosphatase, an enzyme essential to the calcification of bone tissue. Complications include vomiting, growth retardation, and often death in infancy. Children who survive have numerous skeletal abnormalities and suffer from dwarfism. There is no known treatment.

hypophosphatasia (hī´pōfos´f-tā´zh),
n a familial disease in which the children may have very low serum alkaline phosphatase levels, total or partial aplasia of the cementum, and an abnormal periodontal ligament in the primary teeth; a decreased phosphatase level that has been linked to a premature loss of primary teeth in children. Examination reveals absence, hypoplasia, or dysplasia of cementum.


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Moreover, this can be expected to clarify the onset mechanisms of incurable diseases such as prion disease and hypophosphatasia, leading to the development of medical treatments.
On April 1, Aastrom announced the results of a study in which the Company's Tissue Repair Cells (TRCs) were used to safely generate bone in a girl with the genetic bone disease hypophosphatasia.
Since the GPI anchor is a protein related to several diseases including BSE and hypophosphatasia, this achievement is expected to elucidate the mechanisms of developing those diseases, promoting the development of various drugs including antfungal, antimalarial and antiprotozoal agents.
 
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