hypophosphatasia

A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcaemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin d-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation...
Found on http://www.encyclo.co.uk/local/20973

hypophosphatasia

(hi″po-fos″fә-ta┬┤zhә) an inborn error of metabolism marked by abnormally low serum alkaline phosphatase activity; it is manifested by rickets in infants and children and by osteomalacia in adults. It is most severe in babies under six months of age.
Found on http://www.encyclo.co.uk/local/21001

hypophosphatasia

(from the article `alkaline phosphatase`) ...present in high concentrations in growing bone and in bile. It is essential for the deposition of minerals in the bones and teeth. Alkaline ... Hereditary metaphyseal dysplasias, causing bone deformities near the joints, exist in several forms. The primary defect lies in the growth zone of .....
Found on http://www.britannica.com/eb/a-z/h/92

hypophosphatasia

Type: Term Pronunciation: hī′pō-fos′fă-tā′zē-ă Definitions: 1. An abnormally low content of alkaline phosphatase in the circulating blood. Synonyms: hypophosphatasemia
Found on http://www.medilexicon.com/medicaldictionary.php?t=42965

Hypophosphatasia

Hypophosphatasia is a rare, and sometimes fatal metabolic bone disease. Clinical symptoms are heterogeneous ranging from the rapidly fatal perinatal variant, with profound skeletal hypomineralization and respiratory compromise to a milder, progressive osteomalacia later in life. Tissue non-specific alkaline phosphatase (TNSALP) deficiency in osteo...
Found on http://en.wikipedia.org/wiki/Hypophosphatasia
No exact match found